UniProtKB/Swiss-Prot Q15517: Variant p.Ser401Gly

Corneodesmosin
Gene: CDSN
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Variant information Variant position:

401 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Serine (S) to Glycine (G) at position 401 (S401G, p.Ser401Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from small size and polar (S) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Genetic variation in CDSN may be associated with susceptibility to psoriasis [MIM:177900] (PubMed:10599883, PubMed:10844560, PubMed:12472658). Various CDSN alleles are known including 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 (PubMed:11169256). Additional information on the polymorphism described.
Variant description:

In allele 1.21. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs33941312 [ dbSNP | Ensembl ]

Sequence information 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:

GGGSTGSKGPCSPSSSRVPS S SSISSSSGLPYHPCGSASQS 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                         GGGSTGSKGPCSPSSSRVPSSSSISSSSGLPYHPC-GSASQS

Rhesus macaque                GGGSTGSKGPCSPFSSRVHSSSSISSSSGSPYHPC-GSTSQ

Chimpanzee                    GGGSTGSKGPCSPSSSRVPSSSSISSSSGLPYHPC-GSASQ

Mouse                         GTGSVSSKGPCSGTRIQITSSSSSTS-----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
Chain	33 – 529	Corneodesmosin
Region	383 – 492	Disordered
Compositional bias	385 – 470	Polar residues

Literature citations
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; SER-202; GLY-401; ALA-408; SER-410 AND ASP-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; SER-202; GLY-401; ALA-408; SER-410 AND ASP-527; 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 GLY-401 AND ALA-408; ASSOCIATION WITH PSORIASIS;

Disclaimer: 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.