Sequence information
Variant position: 472 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:
MNVKLALDVEIATYRKLLEG
E ECRLNGEGVGQVNISVVQST
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 MNVKLALDVEIATYRKLLEGE ECRLNGEGVGQVNISVVQST
Mouse MNVKLALDVEIATYRKLLEGE ECRLNGEGVGPVNISVVQST
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.
Literature citations
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.
Smith F.J.D.; Jonkman M.F.; van Goor H.; Coleman C.M.; Covello S.P.; Uitto J.; McLean W.H.I.;
Hum. Mol. Genet. 7:1143-1148(1998)
Cited for: VARIANT PC4 LYS-472;
The genetic basis of pachyonychia congenita.
Smith F.J.; Liao H.; Cassidy A.J.; Stewart A.; Hamill K.J.; Wood P.; Joval I.; van Steensel M.A.; Bjoerck E.; Callif-Daley F.; Pals G.; Collins P.; Leachman S.A.; Munro C.S.; McLean W.H.;
J. Investig. Dermatol. Symp. Proc. 10:21-30(2005)
Cited for: VARIANT PC4 LYS-472;
A large mutational study in pachyonychia congenita.
Wilson N.J.; Leachman S.A.; Hansen C.D.; McMullan A.C.; Milstone L.M.; Schwartz M.E.; McLean W.H.; Hull P.R.; Smith F.J.;
J. Invest. Dermatol. 131:1018-1024(2011)
Cited for: VARIANT PC4 LYS-472;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.