Sequence information
Variant position: 102 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:
GGEKATMQNLNDRLASYLDK
V RALEEANTELEVKIRDWYQR
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 GGEKATMQNLNDRLASYLDKV RALEEANTELEVKIRDWYQR
Chimpanzee GGEKATMQNLNDRLASYLDKV RALEEANTELEVKIRDWYQR
Mouse GGEKATMQNLNDRLASYLDKV RALEEANTELEVKIRDWYQK
Rat GGEKATMQNLNDRLASYLDKV RALEEANTELEVKIRDWYQK
Bovine GGEKATMQNLNDRLASYLDKV RALEEANTELELKIRDWYQK
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
Region
102 – 116
Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production
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
A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.
Hashiguchi T.; Yotsumoto S.; Shimada H.; Terasaki K.; Setoyama M.; Kobayashi K.; Saheki T.; Kanzaki T.;
J. Invest. Dermatol. 118:545-547(2002)
Cited for: VARIANT PC2 MET-102;
Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.
Uchida T.; Inaoki M.; Makino E.; Fujimoto W.;
J. Dermatol. Sci. 38:60-63(2005)
Cited for: VARIANT PC2 MET-102;
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.