UniProtKB/SwissProt variant VAR

Variant information

Variant position:

405

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

Type of variant:

Polymorphism

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 Valine (V) to Methionine (M) at position 405 (V405M, p.Val405Met).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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

Other resources:

Links to websites of interest for the variant.

Variant rs61735594 [ dbSNP | Ensembl ]

Sequence information

Variant position:

405

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

Protein sequence length:

686

The length of the canonical sequence.

Location on the sequence:

VTTYKAVIQYSCEETFYTMK V NDGKYVCEADGFWTSSKGEK

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                         VTTYKAVIQYSCEETFYTMKVNDGKYVCEADGFWTSSKGEK

Mouse                         VTTYKAVIQYSCEETFYTMS-SNGKYVCEADGFWTSSKGEK

Rat                           VTTYKAVIQYSCEETFYTMS-SNGKYVCEADGFWTSSKGEK

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	16 – 686	Mannan-binding lectin serine protease 2
Chain	16 – 444	Mannan-binding lectin serine protease 2 A chain
Domain	364 – 432	Sushi 2
Disulfide bond	366 – 412
Disulfide bond	396 – 430
Alternative sequence	186 – 686	Missing. In isoform 2.

Literature citations

A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
Srour M.; Hamdan F.F.; Gan-Or Z.; Labuda D.; Nassif C.; Oskoui M.; Gana-Weisz M.; Orr-Urtreger A.; Rouleau G.A.; Michaud J.L.;
Clin. Genet. 88:E1-E4(2015)
Cited for: VARIANTS MET-128 AND MET-405;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00187: Variant p.Val405Met