Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 14 transcript(s)...
Querying Taster for transcript #1: ENST00000357654
Querying Taster for transcript #2: ENST00000468300
Querying Taster for transcript #3: ENST00000586385
Querying Taster for transcript #4: ENST00000591534
Querying Taster for transcript #5: ENST00000591849
Querying Taster for transcript #6: ENST00000493795
Querying Taster for transcript #7: ENST00000471181
Querying Taster for transcript #8: ENST00000491747
Querying Taster for transcript #9: ENST00000354071
Querying Taster for transcript #10: ENST00000352993
Querying Taster for transcript #11: ENST00000346315
Querying Taster for transcript #12: ENST00000351666
Querying Taster for transcript #13: ENST00000393691
Querying Taster for transcript #14: ENST00000309486
MT speed 0 s - this script 3.495866 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BRCA1polymorphism_automatic0simple_aaeaffectedK1183Rsingle base exchangers16942show file
BRCA1polymorphism_automatic0simple_aaeaffectedK1136Rsingle base exchangers16942show file
BRCA1polymorphism_automatic0simple_aaeaffectedK1183Rsingle base exchangers16942show file
BRCA1polymorphism_automatic0simple_aaeaffectedK1183Rsingle base exchangers16942show file
BRCA1polymorphism_automatic0simple_aaeaffectedK1183Rsingle base exchangers16942show file
BRCA1polymorphism_automatic0simple_aaeaffectedK887Rsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file
BRCA1polymorphism_automatic1.11139386027581e-07without_aaeaffectedsingle base exchangers16942show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000357654
Genbank transcript ID NM_007294
UniProt peptide P38398
alteration type single base exchange
alteration region CDS
DNA changes c.3548A>G
cDNA.3667A>G
g.78291A>G
AA changes K1183R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1183
frameshift no
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1183ESSAVFSKSVQKGELSRSPSPFTH
mutated  all conserved    1183ESSAVFSKSVQRGELSRSPSPFT
Ptroglodytes  all conserved  ENSPTRG00000009236  1183ESSAVFSKSVQRGELSRSPSPFT
Mmulatta  all conserved  ENSMMUG00000001329  1183ESSAVFSKSIQRGELSRSPSPFT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017146  1147ERSAVFNGSILRRESSRSPSPVT
Ggallus  not conserved  ENSGALG00000002781  1179DTSAVFVKRSGAAWVKEVNDSVVSCKP
Trubripes  no alignment  ENSTRUG00000009091  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024564  965--KNAAHPE-SFLPSSVH
protein features
start (aa)end (aa)featuredetails 
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5592 / 5592
position (AA) of stopcodon in wt / mu AA sequence 1864 / 1864
position of stopcodon in wt / mu cDNA 5711 / 5711
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 120 / 120
chromosome 17
strand -1
last intron/exon boundary 5587
theoretical NMD boundary in CDS 5417
length of CDS 5592
coding sequence (CDS) position 3548
cDNA position
(for ins/del: last normal base / first normal base)		 3667
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*
mutated AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQRGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000493795
Genbank transcript ID NM_007297
UniProt peptide P38398
alteration type single base exchange
alteration region CDS
DNA changes c.3407A>G
cDNA.3639A>G
g.78291A>G
AA changes K1136R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1136
frameshift no
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1136ESSAVFSKSVQKGELSRSPSPFTH
mutated  all conserved    1136ESSAVFSKSVQRGELS
Ptroglodytes  all conserved  ENSPTRG00000009236  1183ESSAVFSKSVQRGELS
Mmulatta  all conserved  ENSMMUG00000001329  1183ESSAVFSKSIQRGEL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017146  1147ERSAVFNGSILRRESSRSPSPVT
Ggallus  not conserved  ENSGALG00000002781  1188DSVVSCKP----
Trubripes  no alignment  ENSTRUG00000009091  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024564  965--KNAAHPE-SFLPSSVH
protein features
start (aa)end (aa)featuredetails 
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5451 / 5451
position (AA) of stopcodon in wt / mu AA sequence 1817 / 1817
position of stopcodon in wt / mu cDNA 5683 / 5683
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 233 / 233
chromosome 17
strand -1
last intron/exon boundary 5559
theoretical NMD boundary in CDS 5276
length of CDS 5451
coding sequence (CDS) position 3407
cDNA position
(for ins/del: last normal base / first normal base)		 3639
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
wildtype AA sequence MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGSSVS NLHVEPCGTN THASSLQHEN
SSLLLTKDRM NVEKAEFCNK SKQPGLARSQ HNRWAGSKET CNDRRTPSTE KKVDLNADPL
CERKEWNKQK LPCSENPRDT EDVPWITLNS SIQKVNEWFS RSDELLGSDD SHDGESESNA
KVADVLDVLN EVDEYSGSSE KIDLLASDPH EALICKSERV HSKSVESNIE DKIFGKTYRK
KASLPNLSHV TENLIIGAFV TEPQIIQERP LTNKLKRKRR PTSGLHPEDF IKKADLAVQK
TPEMINQGTN QTEQNGQVMN ITNSGHENKT KGDSIQNEKN PNPIESLEKE SAFKTKAEPI
SSSISNMELE LNIHNSKAPK KNRLRRKSST RHIHALELVV SRNLSPPNCT ELQIDSCSSS
EEIKKKKYNQ MPVRHSRNLQ LMEGKEPATG AKKSNKPNEQ TSKRHDSDTF PELKLTNAPG
SFTKCSNTSE LKEFVNPSLP REEKEEKLET VKVSNNAEDP KDLMLSGERV LQTERSVESS
SISLVPGTDY GTQESISLLE VSTLGKAKTE PNKCVSQCAA FENPKGLIHG CSKDNRNDTE
GFKYPLGHEV NHSRETSIEM EESELDAQYL QNTFKVSKRQ SFAPFSNPGN AEEECATFSA
HSGSLKKQSP KVTFECEQKE ENQGKNESNI KPVQTVNITA GFPVVGQKDK PVDNAKCSIK
GGSRFCLSSQ FRGNETGLIT PNKHGLLQNP YRIPPLFPIK SFVKTKCKKN LLEENFEEHS
MSPEREMGNE NIPSTVSTIS RNNIRENVFK EASSSNINEV GSSTNEVGSS INEIGSSDEN
IQAELGRNRG PKLNAMLRLG VLQPEVYKQS LPGSNCKHPE IKKQEYEEVV QTVNTDFSPY
LISDNLEQPM GSSHASQVCS ETPDDLLDDG EIKEDTSFAE NDIKESSAVF SKSVQKGELS
RSPSPFTHTH LAQGYRRGAK KLESSEENLS SEDEELPCFQ HLLFGKVNNI PSQSTRHSTV
ATECLSKNTE ENLLSLKNSL NDCSNQVILA KASQEHHLSE ETKCSASLFS SQCSELEDLT
ANTNTQDPFL IGSSKQMRHQ SESQGVGLSD KELVSDDEER GTGLEENNQE EQSMDSNLGE
AASGCESETS VSEDCSGLSS QSDILTTQQR DTMQHNLIKL QQEMAELEAV LEQHGSQPSN
SYPSIISDSS ALEDLRNPEQ STSEKAVLTS QKSSEYPISQ NPEGLSADKF EVSADSSTSK
NKEPGVERSS PSKCPSLDDR WYMHSCSGSL QNRNYPSQEE LIKVVDVEEQ QLEESGPHDL
TETSYLPRQD LEGTPYLESG ISLFSDDPES DPSEDRAPES ARVGNIPSST SALKVPQLKV
AESAQSPAAA HTTDTAGYNA MEESVSREKP ELTASTERVN KRMSMVVSGL TPEEFMLVYK
FARKHHITLT NLITEETTHV VMKTDAEFVC ERTLKYFLGI AGGKWVVSYF WVTQSIKERK
MLNEHDFEVR GDVVNGRNHQ GPKRARESQD RKIFRGLEIC CYGPFTNMPT DQLEWMVQLC
GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM CEAPVVTREW VLDSVALYQC
QELDTYLIPQ IPHSHY*
mutated AA sequence MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGSSVS NLHVEPCGTN THASSLQHEN
SSLLLTKDRM NVEKAEFCNK SKQPGLARSQ HNRWAGSKET CNDRRTPSTE KKVDLNADPL
CERKEWNKQK LPCSENPRDT EDVPWITLNS SIQKVNEWFS RSDELLGSDD SHDGESESNA
KVADVLDVLN EVDEYSGSSE KIDLLASDPH EALICKSERV HSKSVESNIE DKIFGKTYRK
KASLPNLSHV TENLIIGAFV TEPQIIQERP LTNKLKRKRR PTSGLHPEDF IKKADLAVQK
TPEMINQGTN QTEQNGQVMN ITNSGHENKT KGDSIQNEKN PNPIESLEKE SAFKTKAEPI
SSSISNMELE LNIHNSKAPK KNRLRRKSST RHIHALELVV SRNLSPPNCT ELQIDSCSSS
EEIKKKKYNQ MPVRHSRNLQ LMEGKEPATG AKKSNKPNEQ TSKRHDSDTF PELKLTNAPG
SFTKCSNTSE LKEFVNPSLP REEKEEKLET VKVSNNAEDP KDLMLSGERV LQTERSVESS
SISLVPGTDY GTQESISLLE VSTLGKAKTE PNKCVSQCAA FENPKGLIHG CSKDNRNDTE
GFKYPLGHEV NHSRETSIEM EESELDAQYL QNTFKVSKRQ SFAPFSNPGN AEEECATFSA
HSGSLKKQSP KVTFECEQKE ENQGKNESNI KPVQTVNITA GFPVVGQKDK PVDNAKCSIK
GGSRFCLSSQ FRGNETGLIT PNKHGLLQNP YRIPPLFPIK SFVKTKCKKN LLEENFEEHS
MSPEREMGNE NIPSTVSTIS RNNIRENVFK EASSSNINEV GSSTNEVGSS INEIGSSDEN
IQAELGRNRG PKLNAMLRLG VLQPEVYKQS LPGSNCKHPE IKKQEYEEVV QTVNTDFSPY
LISDNLEQPM GSSHASQVCS ETPDDLLDDG EIKEDTSFAE NDIKESSAVF SKSVQRGELS
RSPSPFTHTH LAQGYRRGAK KLESSEENLS SEDEELPCFQ HLLFGKVNNI PSQSTRHSTV
ATECLSKNTE ENLLSLKNSL NDCSNQVILA KASQEHHLSE ETKCSASLFS SQCSELEDLT
ANTNTQDPFL IGSSKQMRHQ SESQGVGLSD KELVSDDEER GTGLEENNQE EQSMDSNLGE
AASGCESETS VSEDCSGLSS QSDILTTQQR DTMQHNLIKL QQEMAELEAV LEQHGSQPSN
SYPSIISDSS ALEDLRNPEQ STSEKAVLTS QKSSEYPISQ NPEGLSADKF EVSADSSTSK
NKEPGVERSS PSKCPSLDDR WYMHSCSGSL QNRNYPSQEE LIKVVDVEEQ QLEESGPHDL
TETSYLPRQD LEGTPYLESG ISLFSDDPES DPSEDRAPES ARVGNIPSST SALKVPQLKV
AESAQSPAAA HTTDTAGYNA MEESVSREKP ELTASTERVN KRMSMVVSGL TPEEFMLVYK
FARKHHITLT NLITEETTHV VMKTDAEFVC ERTLKYFLGI AGGKWVVSYF WVTQSIKERK
MLNEHDFEVR GDVVNGRNHQ GPKRARESQD RKIFRGLEIC CYGPFTNMPT DQLEWMVQLC
GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM CEAPVVTREW VLDSVALYQC
QELDTYLIPQ IPHSHY*
speed 0.42 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000471181
Genbank transcript ID NM_007300
UniProt peptide P38398
alteration type single base exchange
alteration region CDS
DNA changes c.3548A>G
cDNA.3780A>G
g.78291A>G
AA changes K1183R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1183
frameshift no
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1183ESSAVFSKSVQKGELSRSPSPFTH
mutated  all conserved    1183ESSAVFSKSVQRGELSRSPSPFT
Ptroglodytes  all conserved  ENSPTRG00000009236  1183ESSAVFSKSVQRGELSRSPSPFT
Mmulatta  all conserved  ENSMMUG00000001329  1183ESSAVFSKSIQRGELSRSPSPFT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017146  1147ERSAVFNGSILRRESSRSPSPVT
Ggallus  not conserved  ENSGALG00000002781  1179DTSAVFVKRSGAAWVKEVNDSVVSCKP
Trubripes  no alignment  ENSTRUG00000009091  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024564  965--KNAAHPE-SFLPSSVH
protein features
start (aa)end (aa)featuredetails 
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5655 / 5655
position (AA) of stopcodon in wt / mu AA sequence 1885 / 1885
position of stopcodon in wt / mu cDNA 5887 / 5887
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 233 / 233
chromosome 17
strand -1
last intron/exon boundary 5763
theoretical NMD boundary in CDS 5480
length of CDS 5655
coding sequence (CDS) position 3548
cDNA position
(for ins/del: last normal base / first normal base)		 3780
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKDSHIHGQR NNSMFSKRPR EHISVLTSQK SSEYPISQNP EGLSADKFEV
SADSSTSKNK EPGVERSSPS KCPSLDDRWY MHSCSGSLQN RNYPSQEELI KVVDVEEQQL
EESGPHDLTE TSYLPRQDLE GTPYLESGIS LFSDDPESDP SEDRAPESAR VGNIPSSTSA
LKVPQLKVAE SAQSPAAAHT TDTAGYNAME ESVSREKPEL TASTERVNKR MSMVVSGLTP
EEFMLVYKFA RKHHITLTNL ITEETTHVVM KTDAEFVCER TLKYFLGIAG GKWVVSYFWV
TQSIKERKML NEHDFEVRGD VVNGRNHQGP KRARESQDRK IFRGLEICCY GPFTNMPTDQ
LEWMVQLCGA SVVKELSSFT LGTGVHPIVV VQPDAWTEDN GFHAIGQMCE APVVTREWVL
DSVALYQCQE LDTYLIPQIP HSHY*
mutated AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQRGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKDSHIHGQR NNSMFSKRPR EHISVLTSQK SSEYPISQNP EGLSADKFEV
SADSSTSKNK EPGVERSSPS KCPSLDDRWY MHSCSGSLQN RNYPSQEELI KVVDVEEQQL
EESGPHDLTE TSYLPRQDLE GTPYLESGIS LFSDDPESDP SEDRAPESAR VGNIPSSTSA
LKVPQLKVAE SAQSPAAAHT TDTAGYNAME ESVSREKPEL TASTERVNKR MSMVVSGLTP
EEFMLVYKFA RKHHITLTNL ITEETTHVVM KTDAEFVCER TLKYFLGIAG GKWVVSYFWV
TQSIKERKML NEHDFEVRGD VVNGRNHQGP KRARESQDRK IFRGLEICCY GPFTNMPTDQ
LEWMVQLCGA SVVKELSSFT LGTGVHPIVV VQPDAWTEDN GFHAIGQMCE APVVTREWVL
DSVALYQCQE LDTYLIPQIP HSHY*
speed 0.27 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000354071
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region CDS
DNA changes c.3548A>G
cDNA.3780A>G
g.78291A>G
AA changes K1183R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1183
frameshift no
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1183ESSAVFSKSVQKGELSRSPSPFTH
mutated  all conserved    1183ESSAVFSKSVQRGELSRSPSPFT
Ptroglodytes  all conserved  ENSPTRG00000009236  1183ESSAVFSKSVQRGELSRSPSPFT
Mmulatta  all conserved  ENSMMUG00000001329  1183ESSAVFSKSIQRGELSRSPSPFT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017146  1147ERSAVFNGSILRRESSRSPSPVT
Ggallus  not conserved  ENSGALG00000002781  1179DTSAVFVKRSGAAWVKEVNDSVVSCKP
Trubripes  not conserved  ENSTRUG00000009091  836EELLDAQSSLTPDGLGMPVPEVT
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000024564  n/a
protein features
start (aa)end (aa)featuredetails 
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4797 / 4797
position (AA) of stopcodon in wt / mu AA sequence 1599 / 1599
position of stopcodon in wt / mu cDNA 5029 / 5029
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 233 / 233
chromosome 17
strand -1
last intron/exon boundary 4905
theoretical NMD boundary in CDS 4622
length of CDS 4797
coding sequence (CDS) position 3548
cDNA position
(for ins/del: last normal base / first normal base)		 3780
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKGVTQSIKE RKMLNEHDFE VRGDVVNGRN HQGPKRARES QDRKIFRGLE
ICCYGPFTNM PTDQLEWMVQ LCGASVVKEL SSFTLGTGVH PIVVVQPDAW TEDNGFHAIG
QMCEAPVVTR EWVLDSVALY QCQELDTYLI PQIPHSHY*
mutated AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQRGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKGVTQSIKE RKMLNEHDFE VRGDVVNGRN HQGPKRARES QDRKIFRGLE
ICCYGPFTNM PTDQLEWMVQ LCGASVVKEL SSFTLGTGVH PIVVVQPDAW TEDNGFHAIG
QMCEAPVVTR EWVLDSVALY QCQELDTYLI PQIPHSHY*
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000346315
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region CDS
DNA changes c.3548A>G
cDNA.3742A>G
g.78291A>G
AA changes K1183R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1183
frameshift no
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1183ESSAVFSKSVQKGELSRSPSPFTH
mutated  all conserved    1183ESSAVFSKSVQRGELSRSPSPFT
Ptroglodytes  all conserved  ENSPTRG00000009236  1183ESSAVFSKSVQRGELSRSPSPFT
Mmulatta  all conserved  ENSMMUG00000001329  1183ESSAVFSKSIQRGELSRSPSPFT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017146  1147ERSAVFNGSILRRESSRSPSPVT
Ggallus  not conserved  ENSGALG00000002781  1179DTSAVFVKRSGAAWVKEVNDSVVSCKP
Trubripes  not conserved  ENSTRUG00000009091  836EELLDAQSSLTPDGLGMPVPEVT
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000024564  n/a
protein features
start (aa)end (aa)featuredetails 
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4875 / 4875
position (AA) of stopcodon in wt / mu AA sequence 1625 / 1625
position of stopcodon in wt / mu cDNA 5069 / 5069
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 195 / 195
chromosome 17
strand -1
last intron/exon boundary 4945
theoretical NMD boundary in CDS 4700
length of CDS 4875
coding sequence (CDS) position 3548
cDNA position
(for ins/del: last normal base / first normal base)		 3742
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKDAEFVCER TLKYFLGIAG GKWVVSYFWV TQSIKERKML NEHDFEVRGD
VVNGRNHQGP KRARESQDRK IFRGLEICCY GPFTNMPTDQ LEWMVQLCGA SVVKELSSFT
LGTGVHPIVV VQPDAWTEDN GFHAIGQMCE APVVTREWVL DSVALYQCQE LDTYLIPQIP
HSHY*
mutated AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQRGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKDAEFVCER TLKYFLGIAG GKWVVSYFWV TQSIKERKML NEHDFEVRGD
VVNGRNHQGP KRARESQDRK IFRGLEICCY GPFTNMPTDQ LEWMVQLCGA SVVKELSSFT
LGTGVHPIVV VQPDAWTEDN GFHAIGQMCE APVVTREWVL DSVALYQCQE LDTYLIPQIP
HSHY*
speed 0.15 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000309486
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region CDS
DNA changes c.2660A>G
cDNA.3688A>G
g.78291A>G
AA changes K887R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 887
frameshift no
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 549
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      887ESSAVFSKSVQKGELSRSPSPFTH
mutated  all conserved    887ESSAVFSKSVQRGELSRSPSPFT
Ptroglodytes  all conserved  ENSPTRG00000009236  1183ESSAVFSKSVQRGELSRSPSPFT
Mmulatta  all conserved  ENSMMUG00000001329  1183ESSAVFSKSIQRGELSRSPSPFT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017146  1147ERSAVFNGSILRRESSRSPSPV
Ggallus  not conserved  ENSGALG00000002781  1180DTSAVFVKRSGAAWVKEVNDSVVSCKP----
Trubripes  no alignment  ENSTRUG00000009091  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000024564  965--KNAAHPE-SFLPSSVH
protein features
start (aa)end (aa)featuredetails 
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4704 / 4704
position (AA) of stopcodon in wt / mu AA sequence 1568 / 1568
position of stopcodon in wt / mu cDNA 5732 / 5732
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1029 / 1029
chromosome 17
strand -1
last intron/exon boundary 5608
theoretical NMD boundary in CDS 4529
length of CDS 4704
coding sequence (CDS) position 2660
cDNA position
(for ins/del: last normal base / first normal base)		 3688
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered cDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
wildtype AA sequence MNVEKAEFCN KSKQPGLARS QHNRWAGSKE TCNDRRTPST EKKVDLNADP LCERKEWNKQ
KLPCSENPRD TEDVPWITLN SSIQKVNEWF SRSDELLGSD DSHDGESESN AKVADVLDVL
NEVDEYSGSS EKIDLLASDP HEALICKSER VHSKSVESNI EDKIFGKTYR KKASLPNLSH
VTENLIIGAF VTEPQIIQER PLTNKLKRKR RPTSGLHPED FIKKADLAVQ KTPEMINQGT
NQTEQNGQVM NITNSGHENK TKGDSIQNEK NPNPIESLEK ESAFKTKAEP ISSSISNMEL
ELNIHNSKAP KKNRLRRKSS TRHIHALELV VSRNLSPPNC TELQIDSCSS SEEIKKKKYN
QMPVRHSRNL QLMEGKEPAT GAKKSNKPNE QTSKRHDSDT FPELKLTNAP GSFTKCSNTS
ELKEFVNPSL PREEKEEKLE TVKVSNNAED PKDLMLSGER VLQTERSVES SSISLVPGTD
YGTQESISLL EVSTLGKAKT EPNKCVSQCA AFENPKGLIH GCSKDNRNDT EGFKYPLGHE
VNHSRETSIE MEESELDAQY LQNTFKVSKR QSFAPFSNPG NAEEECATFS AHSGSLKKQS
PKVTFECEQK EENQGKNESN IKPVQTVNIT AGFPVVGQKD KPVDNAKCSI KGGSRFCLSS
QFRGNETGLI TPNKHGLLQN PYRIPPLFPI KSFVKTKCKK NLLEENFEEH SMSPEREMGN
ENIPSTVSTI SRNNIRENVF KEASSSNINE VGSSTNEVGS SINEIGSSDE NIQAELGRNR
GPKLNAMLRL GVLQPEVYKQ SLPGSNCKHP EIKKQEYEEV VQTVNTDFSP YLISDNLEQP
MGSSHASQVC SETPDDLLDD GEIKEDTSFA ENDIKESSAV FSKSVQKGEL SRSPSPFTHT
HLAQGYRRGA KKLESSEENL SSEDEELPCF QHLLFGKVNN IPSQSTRHST VATECLSKNT
EENLLSLKNS LNDCSNQVIL AKASQEHHLS EETKCSASLF SSQCSELEDL TANTNTQDPF
LIGSSKQMRH QSESQGVGLS DKELVSDDEE RGTGLEENNQ EEQSMDSNLG EAASGCESET
SVSEDCSGLS SQSDILTTQQ RDTMQHNLIK LQQEMAELEA VLEQHGSQPS NSYPSIISDS
SALEDLRNPE QSTSEKAVLT SQKSSEYPIS QNPEGLSADK FEVSADSSTS KNKEPGVERS
SPSKCPSLDD RWYMHSCSGS LQNRNYPSQE ELIKVVDVEE QQLEESGPHD LTETSYLPRQ
DLEGTPYLES GISLFSDDPE SDPSEDRAPE SARVGNIPSS TSALKVPQLK VAESAQSPAA
AHTTDTAGYN AMEESVSREK PELTASTERV NKRMSMVVSG LTPEEFMLVY KFARKHHITL
TNLITEETTH VVMKTDAEFV CERTLKYFLG IAGGKWVVSY FWVTQSIKER KMLNEHDFEV
RGDVVNGRNH QGPKRARESQ DRKIFRGLEI CCYGPFTNMP TDQLEWMVQL CGASVVKELS
SFTLGTGVHP IVVVQPDAWT EDNGFHAIGQ MCEAPVVTRE WVLDSVALYQ CQELDTYLIP
QIPHSHY*
mutated AA sequence MNVEKAEFCN KSKQPGLARS QHNRWAGSKE TCNDRRTPST EKKVDLNADP LCERKEWNKQ
KLPCSENPRD TEDVPWITLN SSIQKVNEWF SRSDELLGSD DSHDGESESN AKVADVLDVL
NEVDEYSGSS EKIDLLASDP HEALICKSER VHSKSVESNI EDKIFGKTYR KKASLPNLSH
VTENLIIGAF VTEPQIIQER PLTNKLKRKR RPTSGLHPED FIKKADLAVQ KTPEMINQGT
NQTEQNGQVM NITNSGHENK TKGDSIQNEK NPNPIESLEK ESAFKTKAEP ISSSISNMEL
ELNIHNSKAP KKNRLRRKSS TRHIHALELV VSRNLSPPNC TELQIDSCSS SEEIKKKKYN
QMPVRHSRNL QLMEGKEPAT GAKKSNKPNE QTSKRHDSDT FPELKLTNAP GSFTKCSNTS
ELKEFVNPSL PREEKEEKLE TVKVSNNAED PKDLMLSGER VLQTERSVES SSISLVPGTD
YGTQESISLL EVSTLGKAKT EPNKCVSQCA AFENPKGLIH GCSKDNRNDT EGFKYPLGHE
VNHSRETSIE MEESELDAQY LQNTFKVSKR QSFAPFSNPG NAEEECATFS AHSGSLKKQS
PKVTFECEQK EENQGKNESN IKPVQTVNIT AGFPVVGQKD KPVDNAKCSI KGGSRFCLSS
QFRGNETGLI TPNKHGLLQN PYRIPPLFPI KSFVKTKCKK NLLEENFEEH SMSPEREMGN
ENIPSTVSTI SRNNIRENVF KEASSSNINE VGSSTNEVGS SINEIGSSDE NIQAELGRNR
GPKLNAMLRL GVLQPEVYKQ SLPGSNCKHP EIKKQEYEEV VQTVNTDFSP YLISDNLEQP
MGSSHASQVC SETPDDLLDD GEIKEDTSFA ENDIKESSAV FSKSVQRGEL SRSPSPFTHT
HLAQGYRRGA KKLESSEENL SSEDEELPCF QHLLFGKVNN IPSQSTRHST VATECLSKNT
EENLLSLKNS LNDCSNQVIL AKASQEHHLS EETKCSASLF SSQCSELEDL TANTNTQDPF
LIGSSKQMRH QSESQGVGLS DKELVSDDEE RGTGLEENNQ EEQSMDSNLG EAASGCESET
SVSEDCSGLS SQSDILTTQQ RDTMQHNLIK LQQEMAELEA VLEQHGSQPS NSYPSIISDS
SALEDLRNPE QSTSEKAVLT SQKSSEYPIS QNPEGLSADK FEVSADSSTS KNKEPGVERS
SPSKCPSLDD RWYMHSCSGS LQNRNYPSQE ELIKVVDVEE QQLEESGPHD LTETSYLPRQ
DLEGTPYLES GISLFSDDPE SDPSEDRAPE SARVGNIPSS TSALKVPQLK VAESAQSPAA
AHTTDTAGYN AMEESVSREK PELTASTERV NKRMSMVVSG LTPEEFMLVY KFARKHHITL
TNLITEETTH VVMKTDAEFV CERTLKYFLG IAGGKWVVSY FWVTQSIKER KMLNEHDFEV
RGDVVNGRNH QGPKRARESQ DRKIFRGLEI CCYGPFTNMP TDQLEWMVQL CGASVVKELS
SFTLGTGVHP IVVVQPDAWT EDNGFHAIGQ MCEAPVVTRE WVLDSVALYQ CQELDTYLIP
QIPHSHY*
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000468300
Genbank transcript ID NM_007299
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 195 / 195
chromosome 17
strand -1
last intron/exon boundary 2276
theoretical NMD boundary in CDS 2031
length of CDS 2100
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN
LIKLQQEMAE LEAVLEQHGS QPSNSYPSII SDSSALEDLR NPEQSTSEKV LTSQKSSEYP
ISQNPEGLSA DKFEVSADSS TSKNKEPGVE RSSPSKCPSL DDRWYMHSCS GSLQNRNYPS
QEELIKVVDV EEQQLEESGP HDLTETSYLP RQDLEGTPYL ESGISLFSDD PESDPSEDRA
PESARVGNIP SSTSALKVPQ LKVAESAQSP AAAHTTDTAG YNAMEESVSR EKPELTASTE
RVNKRMSMVV SGLTPEEFML VYKFARKHHI TLTNLITEET THVVMKTDAE FVCERTLKYF
LGIAGGKWVV SYFWVTQSIK ERKMLNEHDF EVRGDVVNGR NHQGPKRARE SQDRKIFRGL
EICCYGPFTN MPTGCPPNCG CAARCLDRGQ WLPCNWADV*
mutated AA sequence N/A
speed 0.30 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000586385
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 28032
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
35HELIXmight get lost (downstream of altered splice site)
821HELIXmight get lost (downstream of altered splice site)
2465ZN_FINGRING-type.might get lost (downstream of altered splice site)
2527STRANDmight get lost (downstream of altered splice site)
2626MUTAGENI->A: Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity.might get lost (downstream of altered splice site)
2626MUTAGENI->E: No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage.might get lost (downstream of altered splice site)
4653HELIXmight get lost (downstream of altered splice site)
5458STRANDmight get lost (downstream of altered splice site)
6264TURNmight get lost (downstream of altered splice site)
7072TURNmight get lost (downstream of altered splice site)
7171MUTAGENR->G: No effect on interaction with BAP1.might get lost (downstream of altered splice site)
7880STRANDmight get lost (downstream of altered splice site)
8196HELIXmight get lost (downstream of altered splice site)
8989CONFLICTI -> T (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
148148CONFLICTMissing (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
253253CONFLICTA -> V (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 145 / 145
chromosome 17
strand -1
last intron/exon boundary 542
theoretical NMD boundary in CDS 347
length of CDS 522
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV VNGRNHQGPK
RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL GTGVHPIVVV
QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH SHY*
mutated AA sequence N/A
speed 0.29 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000591534
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -13) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 17462
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
35HELIXmight get lost (downstream of altered splice site)
821HELIXmight get lost (downstream of altered splice site)
2465ZN_FINGRING-type.might get lost (downstream of altered splice site)
2527STRANDmight get lost (downstream of altered splice site)
2626MUTAGENI->A: Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity.might get lost (downstream of altered splice site)
2626MUTAGENI->E: No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage.might get lost (downstream of altered splice site)
4653HELIXmight get lost (downstream of altered splice site)
5458STRANDmight get lost (downstream of altered splice site)
6264TURNmight get lost (downstream of altered splice site)
7072TURNmight get lost (downstream of altered splice site)
7171MUTAGENR->G: No effect on interaction with BAP1.might get lost (downstream of altered splice site)
7880STRANDmight get lost (downstream of altered splice site)
8196HELIXmight get lost (downstream of altered splice site)
8989CONFLICTI -> T (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
148148CONFLICTMissing (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
253253CONFLICTA -> V (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 103 / 103
chromosome 17
strand -1
last intron/exon boundary 1043
theoretical NMD boundary in CDS 890
length of CDS 1065
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MHSCSGSLQN RNYPSQEELI KVVDVEEQQL EESGPHDLTE TSYLPRQDLE GTPYLESGIS
LFSDDPESDP SEDRAPESAR VGNIPSSTSA LKVPQLKVAE SAQSPAAAHT TDTAGYNAME
ESVSREKPEL TASTERVNKR MSMVVSGLTP EEFMLVYKFA RKHHITLTNL ITEETTHVVM
KTDAEFVCER TLKYFLGIAG GKWVVSYFWV TQSIKERKML NEHDFEVRGD VVNGRNHQGP
KRARESQDRK IFRGLEICCY GPFTNMPTDQ LEWMVQLCGA SVVKELSSFT LGTGVHPIVV
VQPDAWTEDN GFHAIGQMCE APVVTREWVL DSVALYQCQE LDTYLIPQIP HSHY*
mutated AA sequence N/A
speed 0.09 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000591849
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -32) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 33288
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
35HELIXmight get lost (downstream of altered splice site)
821HELIXmight get lost (downstream of altered splice site)
2465ZN_FINGRING-type.might get lost (downstream of altered splice site)
2527STRANDmight get lost (downstream of altered splice site)
2626MUTAGENI->A: Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity.might get lost (downstream of altered splice site)
2626MUTAGENI->E: No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage.might get lost (downstream of altered splice site)
4653HELIXmight get lost (downstream of altered splice site)
5458STRANDmight get lost (downstream of altered splice site)
6264TURNmight get lost (downstream of altered splice site)
7072TURNmight get lost (downstream of altered splice site)
7171MUTAGENR->G: No effect on interaction with BAP1.might get lost (downstream of altered splice site)
7880STRANDmight get lost (downstream of altered splice site)
8196HELIXmight get lost (downstream of altered splice site)
8989CONFLICTI -> T (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
148148CONFLICTMissing (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
253253CONFLICTA -> V (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 158 / 158
chromosome 17
strand -1
last intron/exon boundary 324
theoretical NMD boundary in CDS 116
length of CDS 291
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSDSKKTWLQ YQLEWMVQLC GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM
CEAPVVTREW VLDSVALYQC QELDTYLIPQ IPHSHY*
mutated AA sequence N/A
speed 0.10 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000491747
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 100 / 100
chromosome 17
strand -1
last intron/exon boundary 2255
theoretical NMD boundary in CDS 2105
length of CDS 2280
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN
LIKLQQEMAE LEAVLEQHGS QPSNSYPSII SDSSALEDLR NPEQSTSEKV LTSQKSSEYP
ISQNPEGLSA DKFEVSADSS TSKNKEPGVE RSSPSKCPSL DDRWYMHSCS GSLQNRNYPS
QEELIKVVDV EEQQLEESGP HDLTETSYLP RQDLEGTPYL ESGISLFSDD PESDPSEDRA
PESARVGNIP SSTSALKVPQ LKVAESAQSP AAAHTTDTAG YNAMEESVSR EKPELTASTE
RVNKRMSMVV SGLTPEEFML VYKFARKHHI TLTNLITEET THVVMKTDAE FVCERTLKYF
LGIAGGKWVV SYFWVTQSIK ERKMLNEHDF EVRGDVVNGR NHQGPKRARE SQDRKIFRGL
EICCYGPFTN MPTDQLEWMV QLCGASVVKE LSSFTLGTGV HPIVVVQPDA WTEDNGFHAI
GQMCEAPVVT REWVLDSVAL YQCQELDTYL IPQIPHSHY*
mutated AA sequence N/A
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000352993
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
253253CONFLICTA -> V (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 233 / 233
chromosome 17
strand -1
last intron/exon boundary 2274
theoretical NMD boundary in CDS 1991
length of CDS 2166
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKGEAASGC ESETSVSEDC
SGLSSQSDIL TTQQRDTMQH NLIKLQQEMA ELEAVLEQHG SQPSNSYPSI ISDSSALEDL
RNPEQSTSEK AVLTSQKSSE YPISQNPEGL SADKFEVSAD SSTSKNKEPG VERSSPSKCP
SLDDRWYMHS CSGSLQNRNY PSQEELIKVV DVEEQQLEES GPHDLTETSY LPRQDLEGTP
YLESGISLFS DDPESDPSED RAPESARVGN IPSSTSALKV PQLKVAESAQ SPAAAHTTDT
AGYNAMEESV SREKPELTAS TERVNKRMSM VVSGLTPEEF MLVYKFARKH HITLTNLITE
ETTHVVMKTD AEFVCERTLK YFLGIAGGKW VVSYFWVTQS IKERKMLNEH DFEVRGDVVN
GRNHQGPKRA RESQDRKIFR GLEICCYGPF TNMPTDQLEW MVQLCGASVV KELSSFTLGT
GVHPIVVVQP DAWTEDNGFH AIGQMCEAPV VTREWVLDSV ALYQCQELDT YLIPQIPHSH
Y*
mutated AA sequence N/A
speed 0.11 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000351666
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
253253CONFLICTA -> V (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 20 / 20
chromosome 17
strand -1
last intron/exon boundary 1938
theoretical NMD boundary in CDS 1868
length of CDS 2043
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN LIKLQQEMAE LEAVLEQHGS
QPSNSYPSII SDSSALEDLR NPEQSTSEKA VLTSQKSSEY PISQNPEGLS ADKFEVSADS
STSKNKEPGV ERSSPSKCPS LDDRWYMHSC SGSLQNRNYP SQEELIKVVD VEEQQLEESG
PHDLTETSYL PRQDLEGTPY LESGISLFSD DPESDPSEDR APESARVGNI PSSTSALKVP
QLKVAESAQS PAAAHTTDTA GYNAMEESVS REKPELTAST ERVNKRMSMV VSGLTPEEFM
LVYKFARKHH ITLTNLITEE TTHVVMKTDA EFVCERTLKY FLGIAGGKWV VSYFWVTQSI
KERKMLNEHD FEVRGDVVNG RNHQGPKRAR ESQDRKIFRG LEICCYGPFT NMPTDQLEWM
VQLCGASVVK ELSSFTLGTG VHPIVVVQPD AWTEDNGFHA IGQMCEAPVV TREWVLDSVA
LYQCQELDTY LIPQIPHSHY *
mutated AA sequence N/A
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999888860614 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058359)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244000T>CN/A show variant in all transcripts   IGV
HGNC symbol BRCA1
Ensembl transcript ID ENST00000393691
Genbank transcript ID N/A
UniProt peptide P38398
alteration type single base exchange
alteration region intron
DNA changes g.78291A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs16942
databasehomozygous (C/C)heterozygousallele carriers
1000G35210621414
ExAC77681723124999

known disease mutation at this position, please check HGMD for details (HGMD ID CM058359)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5470.001
-0.6840
(flanking)0.5580.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased78288wt: 0.9731 / mu: 0.9762 (marginal change - not scored)wt: CGTCCAGAAAGGAGA
mu: CGTCCAGAGAGGAGA		 TCCA|gaaa
Donor increased78290wt: 0.88 / mu: 1.00wt: TCCAGAAAGGAGAGC
mu: TCCAGAGAGGAGAGC		 CAGA|aagg
Donor gained782850.62mu: AAGCGTCCAGAGAGG GCGT|ccag
distance from splice site 951
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
253253CONFLICTA -> V (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
308308MOD_RESPhosphoserine; by AURKA.might get lost (downstream of altered splice site)
308308MUTAGENS->N: Abolishes phosphorylation by AURKA and interferes with cell cycle progression from G2 to mitosis.might get lost (downstream of altered splice site)
395395MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
403403MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
651654COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
753753MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
840840MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
988988MOD_RESPhosphoserine; by CHEK2.might get lost (downstream of altered splice site)
10771077CONFLICTG -> R (in Ref. 4; AAB61673).might get lost (downstream of altered splice site)
11431143MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
11431143MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12111211MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12121212MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12171217MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12181218MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12391239MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12451245MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12801280MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
12801280MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
12981298MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13301330MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13361336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13421342MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13871387MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
13871387MUTAGENS->A: Loss of IR-induced S-phase checkpoint. Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13941394MOD_RESPhosphothreonine; by ATR; in vitro.might get lost (downstream of altered splice site)
13941394MUTAGENT->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
13971424REGIONInteraction with PALB2.might get lost (downstream of altered splice site)
14231423MUTAGENS->A: Inhibition of the infrared-induced G2 arrest. Reduces phosphorylation by ATR.might get lost (downstream of altered splice site)
14231423MOD_RESPhosphoserine; by ATM and ATR.might get lost (downstream of altered splice site)
14261426CONFLICTS -> P (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14531453CONFLICTMissing (in Ref. 3; AAC00049).might get lost (downstream of altered splice site)
14571457MUTAGENS->A: Reduces in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
14571457MOD_RESPhosphoserine; by ATR; in vitro.might get lost (downstream of altered splice site)
14661466MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
14661466MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MUTAGENS->A: No change in infrared S-phase delay; when associated with A-1387. No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
15241524MOD_RESPhosphoserine; by ATM.might get lost (downstream of altered splice site)
15421542MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
16421736DOMAINBRCT 1.might get lost (downstream of altered splice site)
16511656STRANDmight get lost (downstream of altered splice site)
16551655MUTAGENS->A: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
16591672HELIXmight get lost (downstream of altered splice site)
16751679STRANDmight get lost (downstream of altered splice site)
16861689STRANDmight get lost (downstream of altered splice site)
16951697STRANDmight get lost (downstream of altered splice site)
17001700MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17011708HELIXmight get lost (downstream of altered splice site)
17021702MUTAGENK->M: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17121715STRANDmight get lost (downstream of altered splice site)
17171724HELIXmight get lost (downstream of altered splice site)
17201720MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
17201720MUTAGENT->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17251727STRANDmight get lost (downstream of altered splice site)
17311734HELIXmight get lost (downstream of altered splice site)
17381738MUTAGENG->E: Abolishes interaction with BRIP1.might get lost (downstream of altered splice site)
17401742TURNmight get lost (downstream of altered splice site)
17431745STRANDmight get lost (downstream of altered splice site)
17481753HELIXmight get lost (downstream of altered splice site)
17551755MUTAGENS->A: No effect on in vitro phosphorylation by ATR.might get lost (downstream of altered splice site)
17551757TURNmight get lost (downstream of altered splice site)
17561855DOMAINBRCT 2.might get lost (downstream of altered splice site)
17601763TURNmight get lost (downstream of altered splice site)
17651768STRANDmight get lost (downstream of altered splice site)
17701772STRANDmight get lost (downstream of altered splice site)
17731775STRANDmight get lost (downstream of altered splice site)
17771786HELIXmight get lost (downstream of altered splice site)
17891791STRANDmight get lost (downstream of altered splice site)
17951797HELIXmight get lost (downstream of altered splice site)
18011803STRANDmight get lost (downstream of altered splice site)
18061810STRANDmight get lost (downstream of altered splice site)
18121814HELIXmight get lost (downstream of altered splice site)
18191822HELIXmight get lost (downstream of altered splice site)
18251827TURNmight get lost (downstream of altered splice site)
18281830STRANDmight get lost (downstream of altered splice site)
18321834STRANDmight get lost (downstream of altered splice site)
18351844HELIXmight get lost (downstream of altered splice site)
18511853HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 210 / 210
chromosome 17
strand -1
last intron/exon boundary 2224
theoretical NMD boundary in CDS 1964
length of CDS 2139
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 78291
chromosomal position
(for ins/del: last normal base / first normal base)		 41244000
original gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAAAGGAGAGCTTAGCAGGAGTC
altered gDNA sequence snippet TTTTAGCAAAAGCGTCCAGAGAGGAGAGCTTAGCAGGAGTC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGEAAS GCESETSVSE DCSGLSSQSD
ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE DLRNPEQSTS
EKVLTSQKSS EYPISQNPEG LSADKFEVSA DSSTSKNKEP GVERSSPSKC PSLDDRWYMH
SCSGSLQNRN YPSQEELIKV VDVEEQQLEE SGPHDLTETS YLPRQDLEGT PYLESGISLF
SDDPESDPSE DRAPESARVG NIPSSTSALK VPQLKVAESA QSPAAAHTTD TAGYNAMEES
VSREKPELTA STERVNKRMS MVVSGLTPEE FMLVYKFARK HHITLTNLIT EETTHVVMKT
DAEFVCERTL KYFLGIAGGK WVVSYFWVTQ SIKERKMLNE HDFEVRGDVV NGRNHQGPKR
ARESQDRKIF RGLEICCYGP FTNMPTDQLE WMVQLCGASV VKELSSFTLG TGVHPIVVVQ
PDAWTEDNGF HAIGQMCEAP VVTREWVLDS VALYQCQELD TYLIPQIPHS HY*
mutated AA sequence N/A
speed 0.10 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems