Variant position: 188 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 EIDPEIQKVKSREREQIKSL NNQFASFIDKVRFLEQQNQVL
Chimpanzee EIDPEIQKVKSREREQIKSL NNQFASFIDKVRFLEQQNQVL
Mouse EVDPQIQKVKSQEREQIKSL NDKFASFIDKVRFLEQQNQVL
Rat EVDPQIQKVKSQEREQIKSL NDKFASFIDKVRFLEQQNQVL
Dog EIDPEIQKVKTREREQIKSL NNQFASFIDKVRFLEQQNQVL
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.
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis.
Yang J.-M.; Chipev C.C.; Digiovanna J.J.; Bale S.J.; Marekov L.N.; Steinert P.M.; Compton J.G.;
J. Invest. Dermatol. 102:17-23(1994)
Cited for: VARIANTS EHK GLY-155; SER-188 AND PRO-193;
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
McLean W.H.I.; Eady R.A.J.; Dopping-Hepenstal P.J.C.; McMillan J.R.; Leigh I.M.; Navsaria H.A.; Higgins C.; Harper J.I.; Paige D.G.; Morley S.M.;
J. Invest. Dermatol. 102:24-30(1994)
Cited for: VARIANTS EHK PRO-186 AND SER-188;
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.