UniProtKB/SwissProt variant VAR

Variant information

Variant position:

128

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 Threonine (T) to Methionine (M) at position 128 (T128M, p.Thr128Met).

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 polar (T) to medium size and hydrophobic (M)

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 rs141145402 [ dbSNP | Ensembl ]

Sequence information

Variant position:

128

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:

SLGSSLDITFRSDYSNEKPF T GFEAFYAAEDIDECQVAPGE

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                         SLGSSLDITFRSDYSNEKPFTGFEAFYAAEDIDECQVAPGE

Mouse                         SLGPSLKVTFHSDYSNEKPFTGFEAFYAAEDVDECRVSLGD

Rat                           SLGPSLKVTFHSDYSNEKPFTGFEAFYAAEDVDECRTSLGD

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	16 – 137	CUB 1
Metal binding	120 – 120	Calcium 1
Metal binding	122 – 122	Calcium 1; via carbonyl oxygen
Metal binding	123 – 123	Calcium 1
Metal binding	138 – 138	Calcium 2
Metal binding	139 – 139	Calcium 2; via carbonyl oxygen
Metal binding	141 – 141	Calcium 2
Mutagenesis	121 – 121	Y -> A. Strongly decreases affinity for MBL2, but not for FCN2.
Mutagenesis	124 – 124	E -> A. Decreases affinity for MBL2. Slight decrease in affinity for FCN2.

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 O00187: Variant p.Thr128Met