Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999154781 (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 ENST00000417240
Genbank transcript ID N/A
UniProt peptide P35670
alteration type single base exchange
alteration region CDS
DNA changes c.113C>G
cDNA.255C>G
g.53126C>G
AA changes T38R Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
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      38KAERSPVTFFDTPPMLFVFIALGR
mutated  not conserved    38KAERSPVTFFDRPPMLFVFIALG
Ptroglodytes  all identical  ENSPTRG00000005897  714KAERSPVTFFDTPPMLFVFIALG
Mmulatta  all identical  ENSMMUG00000016520  749KAERSPVTFFDTPPMLFVFIALG
Fcatus  all identical  ENSFCAG00000003710  754KAERSPVTFFDTPPMLFVFIALG
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 
1653TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2031 / 2031
position (AA) of stopcodon in wt / mu AA sequence 677 / 677
position of stopcodon in wt / mu cDNA 2173 / 2173
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 143 / 143
chromosome 13
strand -1
last intron/exon boundary 1900
theoretical NMD boundary in CDS 1707
length of CDS 2031
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 255
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 MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDTPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*
mutated AA sequence MDVLIVLATS IAYVYSLVIL VVAVAEKAER SPVTFFDRPP MLFVFIALGR WLEHLAKSKT
SEALAKLMSL QATEATVVTL GEDNLIIREE QVPMELVQRG DIVKVVPGGK FPVDGKVLEG
NTMADESLIT GEAMPVTKKP GSTVIAGSIN AHGSVLIKAT HVGNDTTLAQ IVKLVEEAQM
SKAPIQQLAD RFSGYFVPFI IIMSTLTLVV WIVIGFIDFG VVQRYFPNPN KHISQTEVII
RFAFQTSITV LCIACPCSLG LATPTAVMVG TGVAAQNGIL IKGGKPLEMA HKELGTETLG
YCTDFQAVPG CGIGCKVSNV EGILAHSERP LSAPASHLNE AGSLPAEKDA VPQTFSVLIG
NREWLRRNGL TISSDVSDAM TDHEMKGQTA ILVAIDGVLC GMIAIADAVK QEAALAVHTL
QSMGVDVVLI TGDNRKTARA IATQVGINKV FAEVLPSHKV AKVQELQNKG KKVAMVGDGV
NDSPALAQAD MGVAIGTGTD VAIEAADVVL IRNDLLDVVA SIHLSKRTVR RIRINLVLAL
IYNLVGIPIA AGVFMPIGIV LQPWMGSAAM AASSVSVVLS SLQLKCYKKP DLERYEAQAH
GHMKPLTASQ VSVHIGMDDR WRDSPRATPW DQVSYVSQVS LSSLTSDKPS RHSAAADDDG
DKWSLLLNGR DEEQYI*
speed 1.36 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