Variant position: 486 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 QELMNTKLALDLEIATYRTL LEGEESRMSGECAPNVSVSVS
Chimpanzee QELMNTKLALDLEIATYRTL LEGEESRMSGECAPNVGVSVS
Mouse QELMNTKLALDMEIATYKKL LEGEEIRMSGECTPNVSVSVS
Rat QELMNTKLALDMEIATYRKL LEGEEIRMSGECTPNVSVSVS
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.
Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis.
Lee D.-Y.; Ahn K.-S.; Lee C.-H.; Rho N.-K.; Lee J.-H.; Lee E.-S.; Steinert P.M.; Yang J.-M.;
J. Invest. Dermatol. 119:976-977(2002)
Cited for: VARIANTS EHK LYS-188 AND PRO-486;
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;
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.