Sequence information
Variant position: 99 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:
LLAGGEKATMQNLNDRLASY
L DKVRALEEANTELEVKIRDW
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 LLAGGEKATMQNLNDRLASYL DKVRALEEANTELEVKIRDW
Chimpanzee LLAGGEKATMQNLNDRLASYL DKVRALEEANTELEVKIRDW
Mouse LLAGGEKATMQNLNDRLASYL DKVRALEEANTELEVKIRDW
Rat LLAGGEKATMQNLNDRLASYL DKVRALEEANTELEVKIRDW
Bovine LLVGGEKATMQNLNDRLASYL DKVRALEEANTELELKIRDW
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
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
Terrinoni A.; Smith F.J.D.; Didona B.; Canzona F.; Paradisi M.; Huber M.; Hohl D.; David A.; Verloes A.; Leigh I.M.; Munro C.S.; Melino G.; McLean W.H.I.;
J. Invest. Dermatol. 117:1391-1396(2001)
Cited for: VARIANTS PC2 PRO-95; SER-97 DEL AND PRO-99;
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.