Sequence information
Variant position: 92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 432 The length of the canonical sequence.
Location on the sequence:
SFGGVDGLLAGGEKATMQNL
N DRLASYLDKVRALEEANTEL
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 SFGGVDGLLAGGEKATMQNLN DRLASYLDKVRALEEANTEL
Chimpanzee SFGGVDGLLAGGEKATMQNLN DRLASYLDKVRALEEANTEL
Mouse NFGGVDGLLAGGEKATMQNLN DRLASYLDKVRALEEANTEL
Rat NFGGVDGLLAGGEKATMQNLN DRLASYLDKVRALEEANTEL
Bovine GFGGVDGLLVGGEKATMQNLN DRLASYLDKVRALEEANTEL
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.
Type Positions Description
Chain
1 – 432
Keratin, type I cytoskeletal 17
Domain
84 – 395
IF rod
Region
84 – 120
Coil 1A
Modified residue
110 – 110
Phosphothreonine
Mutagenesis
103 – 103
R -> A. Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S1.
Mutagenesis
106 – 106
E -> A. Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1.
Mutagenesis
109 – 109
N -> A. No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1.
Literature citations
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
Smith F.J.D.; Corden L.D.; Rugg E.L.; Ratnavel R.; Leigh I.M.; Moss C.; Tidman M.J.; Hohl D.; Huber M.; Kunkeler L.; Munro C.S.; Lane E.B.; McLean W.H.I.;
J. Invest. Dermatol. 108:220-223(1997)
Cited for: VARIANTS PC2 SER-92 AND ASP-98; VARIANTS SM HIS-92 AND HIS-94;
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.
Covello S.P.; Smith F.J.D.; Sillevis Smitt J.H.; Paller A.S.; Munro C.S.; Jonkman M.F.; Uitto J.; McLean W.H.I.;
Br. J. Dermatol. 139:475-480(1998)
Cited for: VARIANTS PC2 SER-92 AND CYS-94; VARIANT SM CYS-94;
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: VARIANTS PC2 SER-92 AND PRO-388;
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: VARIANT PC2 SER-92;
Novel missense mutation of keratin in Chinese family with steatocystoma multiplex.
Wang J.F.; Lu W.S.; Sun L.D.; Lv Y.M.; Zhou F.S.; Fang Q.Y.; Tang H.Y.; Cui Y.; Yang S.; Zhang X.J.;
J. Eur. Acad. Dermatol. Venereol. 23:723-724(2009)
Cited for: VARIANTS PC2 SER-92 AND HIS-94;
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: VARIANTS PC2 92-ASN--LEU-99 DEL AND SER-92;
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.