Variant position: 401 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 529 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 GGGSTGSKGPCSPSSSRVPS SSSISSSSGSPYHPC-GSASQS
Rhesus macaque GGGSTGSKGPCSPFSSRVHS SSSISSSSGSPYHPC-GSTSQ
Chimpanzee GGGSTGSKGPCSPSSSRVPS SSSISSSSGLPYHPC-GSASQ
Mouse GTGSVSSKGPCSGTRIQITS SSSSTS-----YHPCSGGPSQ
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
33 – 529 Corneodesmosin
62 – 464 Ser-rich
Identification of six novel polymorphisms in the human corneodesmosin gene.
Guerrin M.; Vincent C.; Simon M.; Ahnini R.T.; Fort M.; Serre G.;
Tissue Antigens 57:32-38(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 30-529 (ALLELES 1.11; 1.21; 1.31; 1.32; 1.41; 1.42; 1.43; 1.51; 1.52; 2.11; 2.21; 2.22 AND 2.23); VARIANTS PHE-56; ASN-143 DEL; ASN-150; PHE-202; GLY-401; ALA-408; LEU-410 AND ASN-527;
Corneodesmosin gene polymorphism demonstrates strong linkage disequilibrium with HLA and association with psoriasis vulgaris.
Jenisch S.; Koch S.; Henseler T.; Nair R.P.; Elder J.T.; Watts C.E.; Westphal E.; Voorhees J.J.; Christophers E.; Kroenke M.;
Tissue Antigens 54:439-449(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 106-529; VARIANTS SER-143; PHE-202; GLY-401; ALA-408 AND LEU-410; ASSOCIATION WITH PSORIASIS;
Psoriasis is associated with a SNP haplotype of the corneodesmosin gene (CDSN).
Orru S.; Giuressi E.; Casula M.; Loizedda A.; Murru R.; Mulargia M.; Masala M.V.; Cerimele D.; Zucca M.; Aste N.; Biggio P.; Carcassi C.; Contu L.;
Tissue Antigens 60:292-298(2002)
Cited for: VARIANTS PHE-202; GLY-401; ALA-408; LEU-410 AND ASN-527; ASSOCIATION WITH PSORIASIS;
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.