Variant position: 479 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 644 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 ARLLRDYQELMNTKLALDLE IATYRTLLEGEESRMSGECAP
Chimpanzee ARLLRDYQELMNTKLALDLE IATYRTLLEGEESRMSGECAP
Mouse ARLLRDFQELMNTKLALDME IATYKKLLEGEEIRMSGECTP
Rat TRLLRDYQELMNTKLALDME IATYRKLLEGEEIRMSGECTP
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.
Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.
Sybert V.P.; Francis J.S.; Corden L.D.; Smith L.T.; Weaver M.; Stephens K.; McLean W.H.I.;
Am. J. Hum. Genet. 64:732-738(1999)
Cited for: VARIANTS AEI PHE-479 AND THR-479;
Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
Arin M.J.; Longley M.A.; Epstein E.H. Jr.; Rothnagel J.A.; Roop D.R.;
Exp. Dermatol. 9:16-19(2000)
Cited for: VARIANT EHK THR-479;
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
Arin M.J.; Oji V.; Emmert S.; Hausser I.; Traupe H.; Krieg T.; Grimberg G.;
Br. J. Dermatol. 164:442-447(2011)
Cited for: VARIANTS EHK LYS-188; SER-188; GLN-478; THR-479; PRO-485; PRO-486 AND LYS-490;
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