Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999863736 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950111)
  • known disease mutation at this position (HGMD CM960124)
  • known disease mutation at this position (HGMD CP995079)
  • known disease mutation: rs3852 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532469C>AN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000400366
Genbank transcript ID NM_001243182
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.2000G>T
cDNA.2157G>T
g.53162G>T
AA changes R667L Score: 102 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 667
frameshift no
known variant Reference ID: rs28942074
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC02020

known disease mutation: rs3852 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995079)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995079)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995079)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995079)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950111)
known disease mutation at this position, please check HGMD for details (HGMD ID CM960124)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995079)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4991
6.0381
(flanking)1.4230.794
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased53162wt: 0.7731 / mu: 0.7998 (marginal change - not scored)wt: TGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAA
mu: TGTGTTCATTGCCCTGGGCCTGTGGCTGGAACACTTGGCAA		 gccg|GTGG
Acc marginally increased53152wt: 0.9797 / mu: 0.9830 (marginal change - not scored)wt: CCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAA
mu: CCATGCTCTTTGTGTTCATTGCCCTGGGCCTGTGGCTGGAA		 attg|CCCT
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      667PPMLFVFIALGRWLEHLAKSKTSE
mutated  not conserved    667VFIALGLWLEHLAKSKTS
Ptroglodytes  all identical  ENSPTRG00000005897  726PPMLFVFIALGRWLEHLAKSKTS
Mmulatta  all identical  ENSMMUG00000016520  761PPMLFVFIALGRWLEHLAKS
Fcatus  all identical  ENSFCAG00000003710  766PPMLFVFIALGRWLEHVAKSKTS
Mmusculus  all identical  ENSMUSG00000006567  780PPMLFVFIALGRWLEHVAKSK
Ggallus  all identical  ENSGALG00000017021  755RWLEHIAKSKTS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030343  498PPMLLIFISLGRWLEHIAKGK
Celegans  all identical  Y76A2A.2  543PPMLIVFIALGRMLEHKAKGK
Xtropicalis  all identical  ENSXETG00000020713  733PPMLFMFIALGRWLEH
protein features
start (aa)end (aa)featuredetails 
654675TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4065 / 4065
position (AA) of stopcodon in wt / mu AA sequence 1355 / 1355
position of stopcodon in wt / mu cDNA 4222 / 4222
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 13
strand -1
last intron/exon boundary 3949
theoretical NMD boundary in CDS 3741
length of CDS 4065
coding sequence (CDS) position 2000
cDNA position
(for ins/del: last normal base / first normal base)		 2157
gDNA position
(for ins/del: last normal base / first normal base)		 53162
chromosomal position
(for ins/del: last normal base / first normal base)		 52532469
original gDNA sequence snippet TGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAA
altered gDNA sequence snippet TGTGTTCATTGCCCTGGGCCTGTGGCTGGAACACTTGGCAA
original cDNA sequence snippet TGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAA
altered cDNA sequence snippet TGTGTTCATTGCCCTGGGCCTGTGGCTGGAACACTTGGCAA
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 LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE
ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA
PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK
YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG
ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK
KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLGG
WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF
VFIALGRWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV
KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG
NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ
RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG
GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL
GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG
SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM
IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK
VQELQNKGKK VAMVGDGVND SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI
HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL
QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS
SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI*
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 LRIDGMHCMI SQLEGVQQIS VSLAEGTATV LYNPSVISPE
ELRAAIEDMG FEASVVSESC STNPLGNHSA GNSMVQTTDG TPTSVQEVAP HTGRLPANHA
PDILAKSPQS TRAVAPQKCF LQIKGMTCAS CVSNIERNLQ KEAGVLSVLV ALMAGKAEIK
YDPEVIQPLE IAQFIQDLGF EAAVMEDYAG SDGNIELTIT GMTCASCVHN IESKLTRTNG
ITYASVALAT SKALVKFDPE IIGPRDIIKI IEEIGFHASL AQRNPNAHHL DHKMEIKQWK
KSFLCSLVFG IPVMALMIYM LIPSNEPHQS MVLDHNIIPG LSILNLIFFI LCTFVQLLGG
WYFYVQAYKS LRHRSANMDV LIVLATSIAY VYSLVILVVA VAEKAERSPV TFFDTPPMLF
VFIALGLWLE HLAKSKTSEA LAKLMSLQAT EATVVTLGED NLIIREEQVP MELVQRGDIV
KVVPGGKFPV DGKVLEGNTM ADESLITGEA MPVTKKPGST VIAGSINAHG SVLIKATHVG
NDTTLAQIVK LVEEAQMSKA PIQQLADRFS GYFVPFIIIM STLTLVVWIV IGFIDFGVVQ
RYFPNPNKHI SQTEVIIRFA FQTSITVLCI ACPCSLGLAT PTAVMVGTGV AAQNGILIKG
GKPLEMAHKI KTVMFDKTGT ITHGVPRVMR VLLLGDVATL PLRKVLAVVG TAEASSEHPL
GVAVTKYCKE ELGTETLGYC TDFQAVPGCG IGCKVSNVEG ILAHSERPLS APASHLNEAG
SLPAEKDAVP QTFSVLIGNR EWLRRNGLTI SSDVSDAMTD HEMKGQTAIL VAIDGVLCGM
IAIADAVKQE AALAVHTLQS MGVDVVLITG DNRKTARAIA TQVGINKVFA EVLPSHKVAK
VQELQNKGKK VAMVGDGVND SPALAQADMG VAIGTGTDVA IEAADVVLIR NDLLDVVASI
HLSKRTVRRI RINLVLALIY NLVGIPIAAG VFMPIGIVLQ PWMGSAAMAA SSVSVVLSSL
QLKCYKKPDL ERYEAQAHGH MKPLTASQVS VHIGMDDRWR DSPRATPWDQ VSYVSQVSLS
SLTSDKPSRH SAAADDDGDK WSLLLNGRDE EQYI*
speed 1.25 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