UniProtKB/SwissProt variant VAR

Variant information

Variant position:

533

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

Type of variant:

US

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 Glycine (G) to Glutamate (E) at position 533 (G533E, p.Gly533Glu).

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.

Other resources:

Links to websites of interest for the variant.

Variant rs867202281 [ dbSNP | Ensembl ]

Sequence information

Variant position:

533

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

Protein sequence length:

754

The length of the canonical sequence.

Location on the sequence:

ELFDDEAIESHDICYKMNTK G NKFGYCKNKENRFLPCEEKD

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                         ELFDDEAIESHDICYKMNTKGNKFGYCKNKENRFLPCEEKD

Mouse                         ELFIGGAEESHSLCYRMNKKGNRFGYCKNKGNTFVPCEEKD

Rat                           ELFSGGAEESHSLCYRMNQKGNRFGYCKNKDNTFVPCEEKD

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	177 – 754	Disintegrin and metalloproteinase domain-containing protein 7
Topological domain	19 – 668	Extracellular
Alternative sequence	211 – 754	Missing. In isoform 2.

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: TISSUE SPECIFICITY; INVOLVEMENT IN CUTANEOUS MELANOMA; VARIANTS SER-14; CYS-31; SER-36; TYR-106; PRO-173; ALA-180; TYR-243; GLU-302; ILE-359; GLU-533; LEU-593; LYS-639 AND ASN-703; CHARACTERIZATION OF VARIANTS TYR-243; ILE-359; LYS-639 AND ASN-703;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H2U9: Variant p.Gly533Glu