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mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM950112)
  • known disease mutation at this position (HGMD CM970140)
  • known disease mutation: rs156283 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:52532470G>CN/A show variant in all transcripts   IGV
HGNC symbol ATP7B
Ensembl transcript ID ENST00000400370
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.53161C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs137853284
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs156283 (pathogenic for Wilson disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950112)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950112)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970140)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950112)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970140)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950112)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950112)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970140)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950112)
known disease mutation at this position, please check HGMD for details (HGMD ID CM970140)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.0381
1.4230.794
(flanking)-2.8070.002
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 increased53157wt: 0.8004 / mu: 0.8045 (marginal change - not scored)wt: CTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTT
mu: CTCTTTGTGTTCATTGCCCTGGGCGGGTGGCTGGAACACTT		 cctg|GGCC
Acc marginally increased53151wt: 0.7937 / mu: 0.8504 (marginal change - not scored)wt: CCCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGA
mu: CCCATGCTCTTTGTGTTCATTGCCCTGGGCGGGTGGCTGGA		 catt|GCCC
distance from splice site 8173
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 2909
theoretical NMD boundary in CDS 2784
length of CDS 3108
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 53161
chromosomal position
(for ins/del: last normal base / first normal base)		 52532470
original gDNA sequence snippet TTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCA
altered gDNA sequence snippet TTGTGTTCATTGCCCTGGGCGGGTGGCTGGAACACTTGGCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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
GFEASVVSGE AMPVTKKPGS TVIAGSINAH GSVLIKATHV GNDTTLAQIV KLVEEAQMSK
APIQQLADRF SGYFVPFIII MSTLTLVVWI VIGFIDFGVV QRYFPNPNKH ISQTEVIIRF
AFQTSITVLC IACPCSLGLA TPTAVMVGTG VAAQNGILIK GGKPLEMAHK IKTVMFDKTG
TITHGVPRVM RVLLLGDVAT LPLRKVLAVV GTAEASSEHP LGVAVTKYCK EELGTETLGY
CTDFQAVPGC GIGCKVSNVE GILAHSERPL SAPASHLNEA GSLPAEKDAV PQTFSVLIGN
REWLRRNGLT ISSDVSDAMT DHEMKGQTAI LVAIDGVLCG MIAIADAVKQ EAALAVHTLQ
SMGVDVVLIT GDNRKTARAI ATQVGINKVF AEVLPSHKVA KVQELQNKGK KVAMVGDGVN
DSPALAQADM GVAIGTGTDV AIEAADVVLI RNDLLDVVAS IHLSKRTVRR IRINLVLALI
YNLVGIPIAA GVFMPIGIVL QPWMGSAAMA ASSVSVVLSS LQLKCYKKPD LERYEAQAHG
HMKPLTASQV SVHIGMDDRW RDSPRATPWD QVSYVSQVSL SSLTSDKPSR HSAAADDDGD
KWSLLLNGRD EEQYI*
mutated AA sequence N/A
speed 1.08 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