Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999986828955 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM123054)
  • known disease mutation at this position (HGMD CM950110)
  • known disease mutation: rs3855 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532509C>TN/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.2293G>A
cDNA.2367G>A
g.53122G>A
AA changes D765N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 765
frameshift no
known variant Reference ID: rs28942075
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs3855 (pathogenic for Wilson disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)
known disease mutation at this position, please check HGMD for details (HGMD ID CM123054)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)
known disease mutation at this position, please check HGMD for details (HGMD ID CM123054)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950110)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9871
4.3771
(flanking)-0.4090.85
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      765EKAERSPVTFFDTPPMLFVFIALG
mutated  all conserved    765EKAERSPVTFFNTPPMLFVFIAL
Ptroglodytes  all identical  ENSPTRG00000005897  713EKAERSPVTFFDTPPMLFVFIAL
Mmulatta  all identical  ENSMMUG00000016520  748EKAERSPVTFFDTPPMLFVFIAL
Fcatus  all identical  ENSFCAG00000003710  753AERSPVTFFDTPPMLFVFIAL
Mmusculus  all identical  ENSMUSG00000006567  767EKAEKSPVTFFDTPPMLFVFIAL
Ggallus  all identical  ENSGALG00000017021  742EKAEKSPVTFFDTPPMLFVFIAL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  485LEQNSSPLTFFDTPPMLLIFISL
Celegans  all identical  Y76A2A.2  530FKWPSSPMTFFDVPPMLIVFIAL
Xtropicalis  all identical  ENSXETG00000020713  720EKADKSPETFFDTPPMLFMFIAL
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 2293
cDNA position
(for ins/del: last normal base / first normal base)		 2367
gDNA position
(for ins/del: last normal base / first normal base)		 53122
chromosomal position
(for ins/del: last normal base / first normal base)		 52532509
original gDNA sequence snippet GGAGCCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTT
altered gDNA sequence snippet GGAGCCCTGTGACATTCTTCAACACGCCCCCCATGCTCTTT
original cDNA sequence snippet GGAGCCCTGTGACATTCTTCGACACGCCCCCCATGCTCTTT
altered cDNA sequence snippet GGAGCCCTGTGACATTCTTCAACACGCCCCCCATGCTCTTT
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 VTFFNTPPML 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 0.92 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