Variant position: 88 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 G----------YGSSFGGVDGLLAGGEKAT MQNLNDRLASYLDKVRALEEA
Chimpanzee G----------YGSSFGGVDGLLAGGEKAT MQNLNDRLASY
Mouse G----------YGGNFGGVDGLLAGGEKAT MQNLNDRLASY
Rat G----------YGGNFGGVDGLLAGGEKAT MQNLNDRLASY
Bovine GYGSGGYVSGGYGGGFGGVDGLLVGGEKAT MQNLNDRLASY
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
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.
Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.
Celebi J.T.; Tanzi E.L.; Yao Y.J.; Michael E.J.; Peacocke M.;
J. Invest. Dermatol. 113:848-850(1999)
Cited for: VARIANT PC2 THR-88;
Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.
Oh S.-W.; Kim M.Y.; Lee J.S.; Kim S.-C.;
J. Dermatol. 33:161-164(2006)
Cited for: VARIANT PC2 THR-88; VARIANT SM THR-88;
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.