Variant position: 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 584 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 GGDGG-LLSGNEKVTMQNLND RLASYLDKVRALEESNYELEG
Mouse GGDGGSLLSGNGRVTMQNLND RLASYMDKVRALEESNYELE
Rat GGDGGGLLSGNEKVTMQNLND RLASYMNKVRDLEESNYELE
Bovine -GDGG-LISGNQKITMQNLND RLASYLDKVRALEESNYELE
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.
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
Rothnagel J.A.; Longley M.A.; Holder R.A.; Kuster W.; Roop D.R.;
J. Invest. Dermatol. 102:13-16(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-161; VARIANTS EHK HIS-156 AND ASN-160;
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.
Cheng J.; Syder A.J.; Yu Q.-C.; Letai A.; Paller A.S.; Fuchs E.;
Cited for: VARIANT EHK HIS-156;
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
Rothnagel J.A.; Dominey A.M.; Dempsey L.D.; Longley M.A.; Greenhalgh D.A.; Gagne T.A.; Huber M.; Frenk E.; Hohl D.; Roop D.R.;
Cited for: VARIANTS EHK HIS-156 AND SER-161;
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
Chipev C.C.; Yang J.-M.; Digiovanna J.J.; Steinert P.M.; Marekov L.; Compton J.G.; Bale S.J.;
Am. J. Hum. Genet. 54:179-190(1994)
Cited for: VARIANTS EHK HIS-154; CYS-156; HIS-156; ASP-160 AND GLN-442;
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 ARG-150; THR-150; CYS-156; HIS-156 AND CYS-449;
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.