UniProtKB/Swiss-Prot O00187: Variant p.Thr128Met

Mannan-binding lectin serine protease 2
Gene: MASP2
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Variant information Variant position:

128 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 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
Binding site	120 – 120
Binding site	122 – 122
Binding site	123 – 123
Binding site	138 – 138
Binding site	139 – 139
Binding site	141 – 141
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;

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.