Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999992187141 (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 CM032861)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:41244435T>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.2225A>G
cDNA.3253A>G
g.77856A>G
AA changes E742G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 742
frameshift no
known variant Reference ID: rs16941
databasehomozygous (C/C)heterozygousallele carriers
1000G33810051343
ExAC76411748525126

known disease mutation at this position, please check HGMD for details (HGMD ID CM032861)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7570.035
-0.3040.035
(flanking)1.3930.176
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 increased77854wt: 0.2554 / mu: 0.2582 (marginal change - not scored)wt: TTTAAAGAAGCCAGC
mu: TTTAAAGGAGCCAGC		 TAAA|gaag
distance from splice site 984
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      742SRNNIRENVFKEASSSNINEVGSS
mutated  not conserved    742SRNNIRENVFKGASSSNINEVGS
Ptroglodytes  all identical  ENSPTRG00000009236  1038SRNNIRENVFKEASSSNINEVGS
Mmulatta  all identical  ENSMMUG00000001329  1037SHNNIRENAFKEASSSNINEVGS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000017146  1021SLNN-RGNACQEAGS--------
Ggallus  not conserved  ENSGALG00000002781  1033DQSNTEEHAFQRTGLNAVSE
Trubripes  no alignment  ENSTRUG00000009091  n/a
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000024564  n/a
protein features no protein features affected
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 2225
cDNA position
(for ins/del: last normal base / first normal base)		 3253
gDNA position
(for ins/del: last normal base / first normal base)		 77856
chromosomal position
(for ins/del: last normal base / first normal base)		 41244435
original gDNA sequence snippet TAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTA
altered gDNA sequence snippet TAGAGAAAATGTTTTTAAAGGAGCCAGCTCAAGCAATATTA
original cDNA sequence snippet TAGAGAAAATGTTTTTAAAGAAGCCAGCTCAAGCAATATTA
altered cDNA sequence snippet TAGAGAAAATGTTTTTAAAGGAGCCAGCTCAAGCAATATTA
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 KGASSSNINE 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*
speed 0.33 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