UniProtKB/SwissProt variant VAR

Variant information

Variant position:

377

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 Valine (V) to Alanine (A) at position 377 (V377A, p.Val377Ala).

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 hydrophobic (V) to small size and hydrophobic (A)

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:

Associated with reduced MASP2 levels in plasma; no effect on catalytic activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs2273346 [ dbSNP | Ensembl ]

Sequence information

Variant position:

377

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:

PMPACSIVDCGPPDDLPSGR V EYITGPGVTTYKAVIQYSCE

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                         PMPACSIVDCGPPDDLPSGRVEYITGPGVTTYKAVIQYSCE

Mouse                         PMPECSIIDCGPPDDLPNGHVDYITGPEVTTYKAVIQYSCE

Rat                           PIPECSIIDCGPPDDLPNGHVDYITGPEVTTYKAVIQYSCE

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
Alternative sequence	186 – 686	Missing. In isoform 2.
Beta strand	375 – 382

Literature citations

The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3.
Stover C.; Endo Y.; Takahashi M.; Lynch N.; Constantinescu C.; Vorup-Jensen T.; Thiel S.; Friedl H.; Hankeln T.; Hall R.; Gregory S.; Fujita T.; Schwaeble W.;
Genes Immun. 2:119-127(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 149-284 AND 364-686; VARIANT ALA-377;

Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms.
Thiel S.; Steffensen R.; Christensen I.J.; Ip W.K.; Lau Y.L.; Reason I.J.; Eiberg H.; Gadjeva M.; Ruseva M.; Jensenius J.C.;
Genes Immun. 8:154-163(2007)
Cited for: VARIANTS MASPD GLY-120; LEU-126 AND HIS-ASN-HIS-156 INS; VARIANTS GLN-99; CYS-118 AND ALA-377; CHARACTERIZATION OF VARIANT ALA-377;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00187: Variant p.Val377Ala