UniProtKB/SwissProt variant VAR

Variant information

Variant position:

712

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

Unclassified

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Glycine (G) to Glutamate (E) at position 712 (G712E, p.Gly712Glu).

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 glycine (G) to medium size and acidic (E)

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

Variant description:

In a cutaneous metastatic melanoma sample; somatic mutation.

Any additional useful information about the variant.

Sequence information

Variant position:

712

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

909

The length of the canonical sequence.

Location on the sequence:

FGGSTDSGPIRQADNQGLTI G ILVTILCLLAAGFVVYLKRK

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                         FGGSTDSGPIRQADNQGLTIGILVTILCLLAAGFVVYLKRK

Mouse                         FGGSTDSGPIRQADNQGLTVGILVSILCLLAAGFVVYLKRK

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	208 – 909	Disintegrin and metalloproteinase domain-containing protein 12
Transmembrane	709 – 729	Helical
Alternative sequence	705 – 740	DNQGLTIGILVTILCLLAAGFVVYLKRKTLIRLLFT -> GKEARQEAAESNRERGQGQEPVGSQEHASTASLTLI. In isoform 4.
Alternative sequence	705 – 738	DNQGLTIGILVTILCLLAAGFVVYLKRKTLIRLL -> EARQEAAESNRERGQGQEPVGSQEHASTASLTLI. In isoform 2 and isoform 3.

Literature citations

Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma.
Wei X.; Moncada-Pazos A.; Cal S.; Soria-Valles C.; Gartner J.; Rudloff U.; Lin J.C.; Rosenberg S.A.; Lopez-Otin C.; Samuels Y.;
Hum. Mutat. 32:E2148-E2175(2011)
Cited for: VARIANTS GLU-712 AND SER-893;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43184: Variant p.Gly712Glu