Variant position: 157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 623 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 FGGGAGGGDGGILTANEKST MQELNSRLASYLDKVQALEEA
Mouse FGGGSGGGEGGILNTNEKIV MQNLNSRLASYMEKVLELEES
Rat FGGGSGGGEGSILNTNEKVV MQNLNSRLASYMDKVQELEED
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 – 623 Keratin, type I cytoskeletal 9
153 – 465 IF rod
153 – 188 Coil 1A
163 – 163 R -> QHA. Leads to aggregate formation.
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
Hennies H.-C.; Zehender D.; Kunze J.; Kuester W.; Reis A.;
Hum. Genet. 93:649-654(1994)
Cited for: VARIANTS EPPK VAL-157 AND PRO-172;
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
Covello S.P.; Irvine A.D.; McKenna K.E.; Munro C.S.; Nevin N.C.; Smith F.J.D.; Uitto J.; McLean W.H.I.;
J. Invest. Dermatol. 111:1207-1209(1998)
Cited for: VARIANTS EPPK THR-157; VAL-157 AND GLN-163;
Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.
Rugg E.L.; Common J.E.; Wilgoss A.; Stevens H.P.; Buchan J.; Leigh I.M.; Kelsell D.P.;
Br. J. Dermatol. 146:952-957(2002)
Cited for: VARIANTS EPPK VAL-157; TRP-163; GLN-163 AND MET-171;
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