UniProtKB/Swiss-Prot Q9BZ11: Variant p.Ala305Val

Disintegrin and metalloproteinase domain-containing protein 33
Gene: ADAM33
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Variant information Variant position:

305 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 Alanine (A) to Valine (V) at position 305 (A305V, p.Ala305Val). 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 hydrophobic (A) to medium size and hydrophobic (V) 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
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 rs1169229302 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

WRRGLWAQRPHDSAQLLTGR A FQGATVGLAPVEGMCRAESS 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                         WRRGLWAQRPHDSAQLLTGRAFQGATVGLAPVEGMCRAESS

Mouse                         WRRGVWARRPHDSTQLLTGRTFQGTTVGLAPVEGICRAESS

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	204 – 813	Disintegrin and metalloproteinase domain-containing protein 33
Topological domain	30 – 701	Extracellular
Domain	210 – 409	Peptidase M12B
Alternative sequence	1 – 478	Missing. In 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: VARIANT VAL-305;

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.