UniProtKB/Swiss-Prot Q15517: Variant p.Asn143Ser

Corneodesmosin
Gene: CDSN
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Variant information Variant position:

143 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 Asparagine (N) to Serine (S) at position 143 (N143S, p.Asn143Ser). 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 medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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.
Other resources:

Links to websites of interest for the variant.

Variant rs3130984 [ dbSNP | Ensembl ]

Sequence information Variant position:

143 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:

SSLQGASGSSQLGSSSSHSG N SGSHSGSSSSHSSSSSSFQF 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                         SSLQGASGS---------------------------SQLGSSSSHSGNSGSHSGSSSSHSSS---------SSSFQF

Rhesus macaque                SSLQGASSS-------------SQLGGSGSQPGSSGSQPGS

Chimpanzee                    SSLQGASGS---------------------------SQLGS

Mouse                         GSRPGGSGSQSGSSGSQSGSSGSQSGSSGSQSGSSGSQSGS

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	38 – 248	Disordered
Compositional bias	43 – 222	Polar residues

Literature citations
Identification in the HLA class I region of a gene expressed late in keratinocyte differentiation.
Zhou Y.; Chaplin D.D.;
Proc. Natl. Acad. Sci. U.S.A. 90:9470-9474(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LEU-18; SER-143; SER-202 AND SER-410; Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation.
Guerrin M.; Simon M.; Montezin M.; Haftek M.; Vincent C.; Serre G.;
J. Biol. Chem. 273:22640-22647(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SER-143; SER-202; ALA-408; SER-410 AND ASP-527; Corneodesmosin DNA polymorphisms in MHC haplotypes and Japanese patients with psoriasis.
Hui J.; Oka A.; Tamiya G.; Tomizawa M.; Kulski J.K.; Penhale W.J.; Tay G.K.; Iizuka M.; Ozawa A.; Inoko H.;
Tissue Antigens 60:77-83(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-18; SER-143; SER-153 DEL; SER-202; SER-410 AND ASP-527; Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.
Shiina T.; Ota M.; Shimizu S.; Katsuyama Y.; Hashimoto N.; Takasu M.; Anzai T.; Kulski J.K.; Kikkawa E.; Naruse T.; Kimura N.; Yanagiya K.; Watanabe A.; Hosomichi K.; Kohara S.; Iwamoto C.; Umehara Y.; Meyer A.; Wanner V.; Sano K.; Macquin C.; Ikeo K.; Tokunaga K.; Gojobori T.; Inoko H.; Bahram S.;
Genetics 173:1555-1570(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS SER-143; SER-202; SER-410 AND ASP-527; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS SER-143; SER-410 AND ASP-527; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS LEU-18; SER-143; SER-153 DEL 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; Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes.
Simon M.; Montezin M.; Guerrin M.; Durieux J.-J.; Serre G.;
J. Biol. Chem. 272:31770-31776(1997)
Cited for: PARTIAL PROTEIN SEQUENCE; CHARACTERIZATION; VARIANT SER-143;

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.