Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999519956 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CI040938)
  • known disease mutation at this position (HGMD CM045739)
  • known disease mutation at this position (HGMD CM994109)
  • known disease mutation: rs3861 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532505G>CN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000418097
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.2297C>G
cDNA.2371C>G
g.53126C>G
AA changes T766R Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 766
frameshift no
known variant Reference ID: rs121907997
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs3861 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)

known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CI040938)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045739)
known disease mutation at this position, please check HGMD for details (HGMD ID CM994109)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.50.002
6.0381
(flanking)4.9871
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 increased53130wt: 0.3649 / mu: 0.4442 (marginal change - not scored)wt: ACGCCCCCCATGCTC
mu: AGGCCCCCCATGCTC		 GCCC|ccca
distance from splice site 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      766KAERSPVTFFDTPPMLFVFIALGR
mutated  not conserved    766KAERSPVTFFDRPPMLFVFIALG
Ptroglodytes  all identical  ENSPTRG00000005897  714KAERSPVTFFDTPPMLFVFIALG
Mmulatta  all identical  ENSMMUG00000016520  749KAERSPVTFFDTPPMLFVFIALG
Fcatus  all identical  ENSFCAG00000003710  754AERSPVTFFDTPPMLFVFIALG
Mmusculus  all identical  ENSMUSG00000006567  768KAEKSPVTFFDTPPMLFVFIALG
Ggallus  all identical  ENSGALG00000017021  743KAEKSPVTFFDTPPMLFVFIALG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  486EQNSSPLTFFDTPPMLLIFISLG
Celegans  not conserved  Y76A2A.2  531KWPSSPMTFFDVPPMLIVFIALG
Xtropicalis  all identical  ENSXETG00000020713  721KADKSPETFFDTPPMLFMFIALG
protein features
start (aa)end (aa)featuredetails 
765785TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4203 / 4203
position (AA) of stopcodon in wt / mu AA sequence 1401 / 1401
position of stopcodon in wt / mu cDNA 4277 / 4277
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 75 / 75
chromosome 13
strand -1
last intron/exon boundary 4004
theoretical NMD boundary in CDS 3879
length of CDS 4203
coding sequence (CDS) position 2297
cDNA position
(for ins/del: last normal base / first normal base)		 2371
gDNA position
(for ins/del: last normal base / first normal base)		 53126
chromosomal position
(for ins/del: last normal base / first normal base)		 52532505
original gDNA sequence snippet CCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGT
altered gDNA sequence snippet CCCTGTGACATTCTTCGACAGGCCCCCCATGCTCTTTGTGT
original cDNA sequence snippet CCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTTGTGT
altered cDNA sequence snippet CCCTGTGACATTCTTCGACAGGCCCCCCATGCTCTTTGTGT
wildtype AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDTPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *
mutated AA sequence MPEQERQITA REGASRKILS KLSLPTRAWE PAMKKSFAFD NVGYEGGLDG LGPSSQVATS
TVRILGMTCQ SCVKSIEDRI SNLKGIISMK VSLEQGSATV KYVPSVVCLQ QVCHQIGDMG
FEASIAEGKA ASWPSRSLPA QEAVVKLRVE GMTCQSCVSS IEGKVRKLQG VVRVKVSLSN
QEAVITYQPY LIQPEDLRDH VNDMGFEAAI KSKVAPLSLG PIDIERLQST NPKRPLSSAN
QNFNNSETLG HQGSHVVTLQ LRIDGMHCKS CVLNIEENIG QLLGVQSIQV SLENKTAQVK
YDPSCTSPVA LQRAIEALPP GNFKVSLPDG AEGSGTDHRS SSSHSPGSPP RNQVQGTCST
TLIAIAGMTC ASCVHSIEGM ISQLEGVQQI SVSLAEGTAT VLYNPSVISP EELRAAIEDM
GFEASVVSES CSTNPLGNHS AGNSMVQTTD GTPTSVQEVA PHTGRLPANH APDILAKSPQ
STRAVAPQKC FLQIKGMTCA SCVSNIERNL QKEAGVLSVL VALMAGKAEI KYDPEVIQPL
EIAQFIQDLG FEAAVMEDYA GSDGNIELTI TGMTCASCVH NIESKLTRTN GITYASVALA
TSKALVKFDP EIIGPRDIIK IIEEIGFHAS LAQRNPNAHH LDHKMEIKQW KKSFLCSLVF
GIPVMALMIY MLIPSNEPHQ SMVLDHNIIP GLSILNLIFF ILCTFVQLLG GWYFYVQAYK
SLRHRSANMD VLIVLATSIA YVYSLVILVV AVAEKAERSP VTFFDRPPML FVFIALGRWL
EHLAKSKTSE ALAKLMSLQA TEATVVTLGE DNLIIREEQV PMELVQRGDI VKVVPGGKFP
VDGKVLEGNT MADESLITGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV
KLVEEAQMSK APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPIKTVM
FDKTGTITHG VPRVMRVLLL GDVATLPLRK VLAVVGTAEA SSEHPLGVAV TKYCKEELGT
ETLGYCTDFQ AVPGCGIGCK VSNVEGILAH SERPLSAPAS HLNEAGSLPA EKDAVPQTFS
VLIGNREWLR RNGLTISSDV SDAMTDHEMK GQTAILVAID GVLCGMIAIA DAVKQEAALA
VHTLQSMGVD VVLITGDNRK TARAIATQVG INKVFAEVLP SHKVAKVQEL QNKGKKVAMV
GDGVNDSPAL AQADMGVAIG TGTDVAIEAA DVVLIRNDLL DVVASIHLSK RTVRRIRINL
VLALIYNLVG IPIAAGVFMP IGIVLQPWMG SAAMAASSVS VVLSSLQLKC YKKPDLERYE
AQAHGHMKPL TASQVSVHIG MDDRWRDSPR ATPWDQVSYV SQVSLSSLTS DKPSRHSAAA
DDDGDKWSLL LNGRDEEQYI *
speed 1.09 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