UniProtKB/Swiss-Prot Q6E0U4: Variant p.Asp427Ala

Dermokine
Gene: DMKN
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Variant information Variant position:

427 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 Aspartate (D) to Alanine (A) at position 427 (D427A, p.Asp427Ala). 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 acidic (D) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs909072 [ dbSNP | Ensembl ]

Sequence information Variant position:

427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

476 The length of the canonical sequence.
Location on the sequence:

NWKAIIEGADASSLQKRAGR D DQNYNYNQHAYPTAYGGKYS 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                         NWKAIIEGADASSLQKRAGRDDQ----------------NYNYNQHAYPTAYGGKYS

Mouse                         NWKQI-EGSDLSSLQKRAGGADQFSKPEARQDLSADSSKNY

Bovine                        NWKVITEGEDLPSLQKRAGGAGQ--PGTGWQDAVAGTAKNY

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	22 – 476	Dermokine
Alternative sequence	347 – 476	NSETSPGMFNFDTFWKNFKSKLGFINWDAINKNQVPPPSTRALLYFSRLWEDFKQNTPFLNWKAIIEGADASSLQKRAGRDDQNYNYNQHAYPTAYGGKYSVKTPAKGGVSPSSSASRVQPGLLQWVKFW -> GFRGQGVSSNMREISKEGNRLLGGSGDNYRGQGSSWGSGGGDAVGGVNTVNSETSPGMFNFDTFWKNFKSKLGFINWDAINKDQRSSRIP. In isoform 6.
Alternative sequence	387 – 476	Missing. In isoform 3, isoform 5 and isoform 7.
Alternative sequence	429 – 429	Q -> QPGAGWQEVAAVTSK. In isoform 4, isoform 12 and isoform 14.

Literature citations
Identification of novel keratinocyte-secreted peptides dermokine-alpha/-beta and a new stratified epithelium-secreted protein gene complex on human chromosome 19q13.1.
Matsui T.; Hayashi-Kisumi F.; Kinoshita Y.; Katahira S.; Morita K.; Miyachi Y.; Ono Y.; Imai T.; Tanigawa Y.; Komiya T.; Tsukita S.;
Genomics 84:384-397(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 15); PROTEIN SEQUENCE OF 22-26; SUBCELLULAR LOCATION; VARIANTS ALA-91 AND ALA-427; The human dermokine gene: description of novel isoforms with different tissue-specific expression and subcellular location.
Toulza E.; Galliano M.F.; Jonca N.; Gallinaro H.; Mechin M.C.; Ishida-Yamamoto A.; Serre G.; Guerrin M.;
J. Invest. Dermatol. 126:503-506(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 5; 9; 10; 11; 12; 13 AND 14); PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 15); TISSUE SPECIFICITY; VARIANTS ALA-91 AND ALA-427; Dermokine: an extensively differentially spliced gene expressed in epithelial cells.
Naso M.F.; Liang B.; Huang C.C.; Song X.-Y.; Shahied-Arruda L.; Belkowski S.M.; D'Andrea M.R.; Polkovitch D.A.; Lawrence D.R.; Griswold D.E.; Sweet R.W.; Amegadzie B.Y.;
J. Invest. Dermatol. 127:1622-1631(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 7 AND 8); TISSUE SPECIFICITY; GLYCOSYLATION; SUBUNIT; VARIANTS ALA-91; SER-280 AND ALA-427; 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] (ISOFORMS 1 AND 14); VARIANTS ALA-91 AND ALA-427;

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.