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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000358731
Querying Taster for transcript #2: ENST00000380675
MT speed 3.4 s - this script 5.686542 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BDP1polymorphism_automatic7.21608687026531e-07simple_aaeaffectedD38Esingle base exchangers3748043show file
BDP1polymorphism_automatic0.99999760744759without_aaeaffectedsingle base exchangers3748043show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999278391313 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:70751818T>GN/A show variant in all transcripts   IGV
HGNC symbol BDP1
Ensembl transcript ID ENST00000358731
Genbank transcript ID NM_018429
UniProt peptide A6H8Y1
alteration type single base exchange
alteration region CDS
DNA changes c.114T>G
cDNA.377T>G
g.377T>G
AA changes D38E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS
38
frameshift no
known variant Reference ID: rs3748043
databasehomozygous (G/G)heterozygousallele carriers
1000G15647692333
ExAC---
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7540.358
-0.3320.346
(flanking)3.3510.679
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained3710.70mu: AGGCCGCCGGAGCCT GCCG|ccgg
distance from splice site 99
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38PQRGRESPRPPDPATDSASKPAEP
mutated  all conserved    38PQRGRESPRPPEPATDSASKPAE
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000009057  38PQRGQESPRPPEPATDSASKPAE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000049658  38PQRGPEAPRPPEPATESAPKPAE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0032512  104PMSPSKAQARQRVR
Celegans  all conserved  B0261.1  37-KAAKQEP-PPEPAPVVEETLPQAPVVAE
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1299REGIONInteraction with ZBTB43.lost
84119COMPBIASSer-rich.might get lost (downstream of altered splice site)
144177COILEDPotential.might get lost (downstream of altered splice site)
233233CONFLICTE -> G (in Ref. 1; AAG30221/AAG30220).might get lost (downstream of altered splice site)
295345DOMAINMyb-like.might get lost (downstream of altered splice site)
355470REGIONRequired for phosphorylation by CSNK2A1.might get lost (downstream of altered splice site)
390390MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-426; A-431; A-437 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-426; A-431; A-437 and A-446.might get lost (downstream of altered splice site)
426426MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-431; A-437 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-431; A-437 and A-446.might get lost (downstream of altered splice site)
431431MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-437 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-426; A-437 and A-446.might get lost (downstream of altered splice site)
437437MUTAGENT->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-431 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-426; A-431 and A-446.might get lost (downstream of altered splice site)
446446MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-431 and A-437. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-426; A-431 and A-437.might get lost (downstream of altered splice site)
575575CONFLICTR -> K (in Ref. 10; BAB71602).might get lost (downstream of altered splice site)
683683CONFLICTV -> D (in Ref. 2; CAC21448).might get lost (downstream of altered splice site)
823877REPEAT1; approximate.might get lost (downstream of altered splice site)
8231327REGION9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.might get lost (downstream of altered splice site)
878932REPEAT2.might get lost (downstream of altered splice site)
881881CONFLICTA -> T (in Ref. 9; AAG09268).might get lost (downstream of altered splice site)
915915MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
933987REPEAT3.might get lost (downstream of altered splice site)
973973CONFLICTV -> G (in Ref. 2; CAC21448/CAC04245).might get lost (downstream of altered splice site)
9881040REPEAT4.might get lost (downstream of altered splice site)
10091009CONFLICTE -> G (in Ref. 1; AAG30221/AAG30220).might get lost (downstream of altered splice site)
10411094REPEAT5.might get lost (downstream of altered splice site)
10781103COILEDPotential.might get lost (downstream of altered splice site)
10951148REPEAT6.might get lost (downstream of altered splice site)
11491203REPEAT7.might get lost (downstream of altered splice site)
12041257REPEAT8; approximate.might get lost (downstream of altered splice site)
12231284COILEDPotential.might get lost (downstream of altered splice site)
12581327REPEAT9; approximate.might get lost (downstream of altered splice site)
21962196MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
25802580CONFLICTT -> A (in Ref. 6; CAE46010).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7875 / 7875
position (AA) of stopcodon in wt / mu AA sequence 2625 / 2625
position of stopcodon in wt / mu cDNA 8138 / 8138
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 264 / 264
chromosome 5
strand 1
last intron/exon boundary 8007
theoretical NMD boundary in CDS 7693
length of CDS 7875
coding sequence (CDS) position 114
cDNA position
(for ins/del: last normal base / first normal base)
377
gDNA position
(for ins/del: last normal base / first normal base)
377
chromosomal position
(for ins/del: last normal base / first normal base)
70751818
original gDNA sequence snippet GAGTCTCCCAGGCCGCCGGATCCTGCCACGGACTCTGCTTC
altered gDNA sequence snippet GAGTCTCCCAGGCCGCCGGAGCCTGCCACGGACTCTGCTTC
original cDNA sequence snippet GAGTCTCCCAGGCCGCCGGATCCTGCCACGGACTCTGCTTC
altered cDNA sequence snippet GAGTCTCCCAGGCCGCCGGAGCCTGCCACGGACTCTGCTTC
wildtype AA sequence MFRRARLSVK PNVRPGVGAR GSTASNPQRG RESPRPPDPA TDSASKPAEP TDVPTVDFGG
AEPQEKAPRS STEKTGGDND VEESSRSSST VSQRRKRISS TSSLVKSSVS VPSESHPLST
INQEAPQPTA TSTKEKQPCS DRYRIYKAQK LREMLKEELR KEKKQWKNKY AINESQRPPD
RSKMTMRDFI YYLPDNNPMT SSLEQEKKTE KPSTPVQTRE QEGKSTPNAE DNEMEEETDD
GPLLVPRVKV AEDGSIILDE ESLTVEVLRT KGPCVVEEND PIFERGSTTT YSSFRKNYYS
KPWSNKETDM FFLAISMVGT DFSMIGQLFP HRARIEIKNK FKREEKTNGW RIDKAFQEKR
PFDFDFFAHL LQKVLAEEEK RKQKSVKNHS LKEKKSTKPR KNVKVKKVAC EGVNNDPDES
MSSRISDTER SQKDAQTVEE ESLTLSREDA EQVALEVDLN QKKRRRKKQD GANELGVNNL
LENATVQAGP SKGEKHKNKC QAIRPELKEG ECSKEQMLSC TQNIDGIVGF ASTEKVEKRT
DPILSLSNQQ DATSVATESS ESSTSDLPSF EVGIRALCEV NNAEGSCIEE RNVDLKNNSL
EIDQTENVKP MLRGRFQRPK PNLSRAGKKS VLSQGKTESE SKNSHSKTSV EKNHVEKDKM
NTLDILRMET TERENPEAET VSVLGEKNCL QEGSQLKALR PVQVRGRLQK PKPNAGKAAE
RKEILISQEE IGANVEKNEN ESCADRDTPQ HMEDQSRKDF EEEDVILQPE KNDSFQNVQP
DEPKVLNECL SVQENNKANK LNQVPILRTR FQKPKPNIGR GTGRREISSK EEVLEKILVS
GEMAAALRET VRLDTSPKEM VPAEINTKEM QSDLKETGRR AISPREKILD VIDDTIEMET
GLKAMGREIC LREKTPEVID ATEEIDKDLE EAGRREISPQ KNGPEEVKPL GEVETDLKAT
GNESSPREKT PEVTDATEEI DKNLEETGRR KISPRENGPE EVKPVDEMET DLNATGRESS
PREKTPEVID ATEEIDLEET EREVSPQENG LEEVKPLGEM ETDLKATGRD SFPRGKTPEV
IDAIEEIEID LEETEREISP QENGLEEVKP LGEMQTDLKA TGREISPREK TPEVIDATEE
IDKDLEETGR REISPEENGP EEVKPVDEME TDLKTTGREG SSREKTREVI DAAEVIETDL
EETEREISPQ ENGPEEVKPV GKMETDLKEI REEISQREKV LAEFSAIREK EIDLKETGKR
DIPIMEKVSG KMAVVEEMEA DLKETGKENF RERGSEEICV TEEKVAELKQ TGKTDISPRE
NELEETSTSR QTDTHLMQSG SNDFSAVPSL DIQNISSEVL SMMHTPVEEK RNSEKEVSSH
FSHFKISSQT HESDKTEVQG IQSPDVPEQF SDINLSKSLP QEQKPLEIKP APFVRSRFKR
PKPNLARAAL KRETTESEKY IYEKKSETKK METIVMQENN EQTDTLPSQH DEASLMISRE
KDTLGHRNEE AVILPCTQTE RNLSPSNSCE PKEESQSAPV QKNDSVVSVG TNNVNTFQQE
MKESVIQTAR QVRGRLQRPR PNIRKTGQRQ IVDKGEAKGI IKEGRTILPK DETEKKVLTV
SNSQIETEIE VPSSAVPEHR MYENQSQVVL VENLHVNKTN ETIRHENKPY VPSSAQMTRR
KFQKAKPNLG RAHSKKEEPV LEKVTTDQSK EGKPEDHLLQ KGASNTQLLL KEKAELLTSL
EVSARKDCVG SKESALAKID AELEEVGPSR RVGEETVGDN SPSSVVEEQY LNKLTSCPQP
LNETSYSKIA LDGKTTISST SEYERNRGER RSHKKFKPNV TRGRGSKRVR GKTSKKEPRA
SKAMLVTLRA SQEEDDDADD FESDYEEESY HLAPEEVNKA PVFVPVGLRS PEPVSAQIEE
TMEELEITVN VPDVGCIAVV EHELPNTDVT TEEMKQEENL SVPFEMTTSE HIQDEPGTND
GSTEAAITLL TMGDLVLQSE ISSEQGDVGV CIIPHVHSKD KSHIPSSLDN VNHKIVHECQ
ELSSPVITTS PASFEENKIV LEEQSSREEI SLMEKVKENA TPTRNTISKV TSNLRIRSRL
AKPKPNLEKT LGTNRLDDYQ EVSSLCVTKG AEMETQRETE KNASKATELE NKNLGPVTTA
ENKDQSKLAC VHGIKGTSIS SEVNLTERNE NQEESSQEVH MLSVAPVASS ETGPCTLGLD
RGLGENSVEE PQIKDSKGDS VLTLPVPEYT PTSIPEVQQE NIINPQDLTV NLVANVPQDG
EDEQAFILTL VEIPANAVEE FTDATAQFMP NPLLPAPILV KSVNTEERGD MSICLPATSV
GQDAMGLSIS GRDNSKKPPD NLDLVSRKRF QCRLDKNDHI PPAKKRSLTL RDDCQEYTTE
VHSKELTNVF EETGESHKGQ DIFLTSGSTL TTPEPQRQQV EAAFQSRGSR SPDACMDKNV
PQLPQDEMIV SDKEERTDAA PKSQQMDSRT SSSKASLSRP GRRPLGFLSL ICSKNSLESD
EPMQVHSKKR LKPLIPGLRK KLKRSNPFNE SQEKNRESSD LLPSPSVITT QSENISSSAT
QVSCDQPLLK EGYKSAQKRA PQGEATTVSE YFFNDIFIEV DETE*
mutated AA sequence MFRRARLSVK PNVRPGVGAR GSTASNPQRG RESPRPPEPA TDSASKPAEP TDVPTVDFGG
AEPQEKAPRS STEKTGGDND VEESSRSSST VSQRRKRISS TSSLVKSSVS VPSESHPLST
INQEAPQPTA TSTKEKQPCS DRYRIYKAQK LREMLKEELR KEKKQWKNKY AINESQRPPD
RSKMTMRDFI YYLPDNNPMT SSLEQEKKTE KPSTPVQTRE QEGKSTPNAE DNEMEEETDD
GPLLVPRVKV AEDGSIILDE ESLTVEVLRT KGPCVVEEND PIFERGSTTT YSSFRKNYYS
KPWSNKETDM FFLAISMVGT DFSMIGQLFP HRARIEIKNK FKREEKTNGW RIDKAFQEKR
PFDFDFFAHL LQKVLAEEEK RKQKSVKNHS LKEKKSTKPR KNVKVKKVAC EGVNNDPDES
MSSRISDTER SQKDAQTVEE ESLTLSREDA EQVALEVDLN QKKRRRKKQD GANELGVNNL
LENATVQAGP SKGEKHKNKC QAIRPELKEG ECSKEQMLSC TQNIDGIVGF ASTEKVEKRT
DPILSLSNQQ DATSVATESS ESSTSDLPSF EVGIRALCEV NNAEGSCIEE RNVDLKNNSL
EIDQTENVKP MLRGRFQRPK PNLSRAGKKS VLSQGKTESE SKNSHSKTSV EKNHVEKDKM
NTLDILRMET TERENPEAET VSVLGEKNCL QEGSQLKALR PVQVRGRLQK PKPNAGKAAE
RKEILISQEE IGANVEKNEN ESCADRDTPQ HMEDQSRKDF EEEDVILQPE KNDSFQNVQP
DEPKVLNECL SVQENNKANK LNQVPILRTR FQKPKPNIGR GTGRREISSK EEVLEKILVS
GEMAAALRET VRLDTSPKEM VPAEINTKEM QSDLKETGRR AISPREKILD VIDDTIEMET
GLKAMGREIC LREKTPEVID ATEEIDKDLE EAGRREISPQ KNGPEEVKPL GEVETDLKAT
GNESSPREKT PEVTDATEEI DKNLEETGRR KISPRENGPE EVKPVDEMET DLNATGRESS
PREKTPEVID ATEEIDLEET EREVSPQENG LEEVKPLGEM ETDLKATGRD SFPRGKTPEV
IDAIEEIEID LEETEREISP QENGLEEVKP LGEMQTDLKA TGREISPREK TPEVIDATEE
IDKDLEETGR REISPEENGP EEVKPVDEME TDLKTTGREG SSREKTREVI DAAEVIETDL
EETEREISPQ ENGPEEVKPV GKMETDLKEI REEISQREKV LAEFSAIREK EIDLKETGKR
DIPIMEKVSG KMAVVEEMEA DLKETGKENF RERGSEEICV TEEKVAELKQ TGKTDISPRE
NELEETSTSR QTDTHLMQSG SNDFSAVPSL DIQNISSEVL SMMHTPVEEK RNSEKEVSSH
FSHFKISSQT HESDKTEVQG IQSPDVPEQF SDINLSKSLP QEQKPLEIKP APFVRSRFKR
PKPNLARAAL KRETTESEKY IYEKKSETKK METIVMQENN EQTDTLPSQH DEASLMISRE
KDTLGHRNEE AVILPCTQTE RNLSPSNSCE PKEESQSAPV QKNDSVVSVG TNNVNTFQQE
MKESVIQTAR QVRGRLQRPR PNIRKTGQRQ IVDKGEAKGI IKEGRTILPK DETEKKVLTV
SNSQIETEIE VPSSAVPEHR MYENQSQVVL VENLHVNKTN ETIRHENKPY VPSSAQMTRR
KFQKAKPNLG RAHSKKEEPV LEKVTTDQSK EGKPEDHLLQ KGASNTQLLL KEKAELLTSL
EVSARKDCVG SKESALAKID AELEEVGPSR RVGEETVGDN SPSSVVEEQY LNKLTSCPQP
LNETSYSKIA LDGKTTISST SEYERNRGER RSHKKFKPNV TRGRGSKRVR GKTSKKEPRA
SKAMLVTLRA SQEEDDDADD FESDYEEESY HLAPEEVNKA PVFVPVGLRS PEPVSAQIEE
TMEELEITVN VPDVGCIAVV EHELPNTDVT TEEMKQEENL SVPFEMTTSE HIQDEPGTND
GSTEAAITLL TMGDLVLQSE ISSEQGDVGV CIIPHVHSKD KSHIPSSLDN VNHKIVHECQ
ELSSPVITTS PASFEENKIV LEEQSSREEI SLMEKVKENA TPTRNTISKV TSNLRIRSRL
AKPKPNLEKT LGTNRLDDYQ EVSSLCVTKG AEMETQRETE KNASKATELE NKNLGPVTTA
ENKDQSKLAC VHGIKGTSIS SEVNLTERNE NQEESSQEVH MLSVAPVASS ETGPCTLGLD
RGLGENSVEE PQIKDSKGDS VLTLPVPEYT PTSIPEVQQE NIINPQDLTV NLVANVPQDG
EDEQAFILTL VEIPANAVEE FTDATAQFMP NPLLPAPILV KSVNTEERGD MSICLPATSV
GQDAMGLSIS GRDNSKKPPD NLDLVSRKRF QCRLDKNDHI PPAKKRSLTL RDDCQEYTTE
VHSKELTNVF EETGESHKGQ DIFLTSGSTL TTPEPQRQQV EAAFQSRGSR SPDACMDKNV
PQLPQDEMIV SDKEERTDAA PKSQQMDSRT SSSKASLSRP GRRPLGFLSL ICSKNSLESD
EPMQVHSKKR LKPLIPGLRK KLKRSNPFNE SQEKNRESSD LLPSPSVITT QSENISSSAT
QVSCDQPLLK EGYKSAQKRA PQGEATTVSE YFFNDIFIEV DETE*
speed 1.92 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: 2.39255240982173e-06 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:70751818T>GN/A show variant in all transcripts   IGV
HGNC symbol BDP1
Ensembl transcript ID ENST00000380675
Genbank transcript ID N/A
UniProt peptide A6H8Y1
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.377T>G
g.377T>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs3748043
databasehomozygous (G/G)heterozygousallele carriers
1000G15647692333
ExAC---
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7540.358
-0.3320.346
(flanking)3.3510.679
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -1827) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained3710.70mu: AGGCCGCCGGAGCCT GCCG|ccgg
distance from splice site 99
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
1299REGIONInteraction with ZBTB43.might get lost (downstream of altered splice site)
88CONFLICTS -> N (in Ref. 9; AAG09268).might get lost (downstream of altered splice site)
84119COMPBIASSer-rich.might get lost (downstream of altered splice site)
144177COILEDPotential.might get lost (downstream of altered splice site)
233233CONFLICTE -> G (in Ref. 1; AAG30221/AAG30220).might get lost (downstream of altered splice site)
295345DOMAINMyb-like.might get lost (downstream of altered splice site)
355470REGIONRequired for phosphorylation by CSNK2A1.might get lost (downstream of altered splice site)
390390MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-426; A-431; A-437 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-426; A-431; A-437 and A-446.might get lost (downstream of altered splice site)
426426MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-431; A-437 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-431; A-437 and A-446.might get lost (downstream of altered splice site)
431431MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-437 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-426; A-437 and A-446.might get lost (downstream of altered splice site)
437437MUTAGENT->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-431 and A-446. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-426; A-431 and A-446.might get lost (downstream of altered splice site)
446446MUTAGENS->A: Not phosphorylated by CSNK2A1; when associated with A-390; A-426; A-431 and A-437. CK2 treatment constitutively activates for U6 transcription; when associated with A-390; A-426; A-431 and A-437.might get lost (downstream of altered splice site)
575575CONFLICTR -> K (in Ref. 10; BAB71602).might get lost (downstream of altered splice site)
683683CONFLICTV -> D (in Ref. 2; CAC21448).might get lost (downstream of altered splice site)
823877REPEAT1; approximate.might get lost (downstream of altered splice site)
8231327REGION9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.might get lost (downstream of altered splice site)
878932REPEAT2.might get lost (downstream of altered splice site)
881881CONFLICTA -> T (in Ref. 9; AAG09268).might get lost (downstream of altered splice site)
915915MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
933987REPEAT3.might get lost (downstream of altered splice site)
973973CONFLICTV -> G (in Ref. 2; CAC21448/CAC04245).might get lost (downstream of altered splice site)
9881040REPEAT4.might get lost (downstream of altered splice site)
10091009CONFLICTE -> G (in Ref. 1; AAG30221/AAG30220).might get lost (downstream of altered splice site)
10411094REPEAT5.might get lost (downstream of altered splice site)
10781103COILEDPotential.might get lost (downstream of altered splice site)
10951148REPEAT6.might get lost (downstream of altered splice site)
11491203REPEAT7.might get lost (downstream of altered splice site)
12041257REPEAT8; approximate.might get lost (downstream of altered splice site)
12231284COILEDPotential.might get lost (downstream of altered splice site)
12581327REPEAT9; approximate.might get lost (downstream of altered splice site)
21962196MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
25802580CONFLICTT -> A (in Ref. 6; CAE46010).might 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 5853 / 5853
chromosome 5
strand 1
last intron/exon boundary 7817
theoretical NMD boundary in CDS 1914
length of CDS 1392
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)
377
gDNA position
(for ins/del: last normal base / first normal base)
377
chromosomal position
(for ins/del: last normal base / first normal base)
70751818
original gDNA sequence snippet GAGTCTCCCAGGCCGCCGGATCCTGCCACGGACTCTGCTTC
altered gDNA sequence snippet GAGTCTCCCAGGCCGCCGGAGCCTGCCACGGACTCTGCTTC
original cDNA sequence snippet GAGTCTCCCAGGCCGCCGGATCCTGCCACGGACTCTGCTTC
altered cDNA sequence snippet GAGTCTCCCAGGCCGCCGGAGCCTGCCACGGACTCTGCTTC
wildtype AA sequence MLVTLRASQE EDDDADDFES DYEEESYHLA PEEVNKAPVF VPVGLRSPEP VSAQIEETME
ELEITVNVPD VGCIAVVEHE LPNTDVTTEE MKQEENLSVP FEMTTSEHIQ DEPGTNDGST
EAAITLLTMG DLVLQSEISS EQGDGVCIIP HVHSKDKSHI PSSLDNVNHK IVHECQELSS
PVITTSPASF EENKIVLEEQ SSREEISLME KVKENATPTR NTISKVTSNL RIRSRLAKPK
PNLEKTLGTN RLDDYQEVSS LCVTKGAEME TQRETEKNAS KATELENKNL GPVTTAENKD
QSKLACVHGI KGTSISSEVN LTERNENQEE SSQEVHMLSV APVASSETGP CTLGLDRGLG
ENSVEEPQIK DSKGDSVLTL PVPEYTPTSI PEVQQENIIN PQDLTVFVYQ QLQLVKMPWV
YLFLEEIILK SRLIIWILYL GRDFNAGLIK MTTFLLPKNV HSL*
mutated AA sequence N/A
speed 1.48 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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Problems