Variant position: 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 564 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QIDPTIQRVRAEEREQIKTL NNKFASFIDKVRFLEQQNKVL
Mouse QIDPTIQRVRTEEREQIKTL NNKFASFIDKVRFLEQQNKVL
Rat QIDPTIQRVRTEEREQIKTL NNKFASFIDKVRFLEQQNKVL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H.; Sayers J.M.; Wilson N.J.; Irvine A.D.; Mellerio J.E.; Baselga E.; Bayliss S.J.; Uliana V.; Fimiani M.; Lane E.B.; McLean W.H.; Leachman S.A.; Smith F.J.;
J. Dermatol. Sci. 48:199-205(2007)
Cited for: VARIANTS PC3 PRO-164; ASP-171; SER-171; TYR-171; ASN-172 DEL; CYS-174; ARG-469; PRO-469 AND LYS-472;
Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.
Bai Z.L.; Feng Y.G.; Tan S.S.; Wang X.Y.; Xiao S.X.; Wang H.; Jia H.Q.; Wu J.W.; He D.L.; Kang R.H.;
Br. J. Dermatol. 159:238-240(2008)
Cited for: VARIANTS PC3 ASP-171 AND HIS-465;
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