Variant position: 98 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:
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 GLLAGGEKATMQNLNDRLAS YLDKVRALEEANTELEVKIRD
Chimpanzee GLLAGGEKATMQNLNDRLAS YLDKVRALEEANTELEVKIRD
Mouse GLLAGGEKATMQNLNDRLAS YLDKVRALEEANTELEVKIRD
Rat GLLAGGEKATMQNLNDRLAS YLDKVRALEEANTELEVKIRD
Bovine GLLVGGEKATMQNLNDRLAS YLDKVRALEEANTELELKIRD
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
1 – 432 Keratin, type I cytoskeletal 17
84 – 395 IF rod
84 – 120 Coil 1A
110 – 110 Phosphothreonine
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.
106 – 106 E -> A. Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1.
109 – 109 N -> A. No significant effect on T-cell proliferation or IFN-gamma production when part of the altered peptide epitope S1.
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;
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.