UniProtKB/Swiss-Prot P22897: Variant p.Thr399Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 399 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 Alanine (A) at position 399 (T399A, p.Thr399Ala). 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 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
Polymorphism: Genetic variations in MRC1 may influence susceptibility or resistance to leprosy in some populations. Particularly, Gly-396 seems to be a risk factor for leprosy when associated with Ala-399 and Phe-407. Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs71497223 [ dbSNP | Ensembl ]

Sequence information

Variant position: 399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1456 The length of the canonical sequence.
Location on the sequence: DEKKIQRDALTTCRKEGGDL T SIHTIEELDFIISQLGYEPN 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.
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	19 – 1456	Macrophage mannose receptor 1
Topological domain	19 – 1389	Extracellular
Domain	369 – 487	C-type lectin 2
Disulfide bond	391 – 486

Literature citations

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS SER-396; ALA-399 AND PHE-407; Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility.
Alter A.; de Leseleuc L.; Van Thuc N.; Thai V.H.; Huong N.T.; Ba N.N.; Cardoso C.C.; Grant A.V.; Abel L.; Moraes M.O.; Alcais A.; Schurr E.;
Hum. Genet. 127:337-348(2010)
Cited for: POLYMORPHISM; POSSIBLE ASSOCIATION OF VARIANT SER-396 WITH RESISTANCE TO LEPROSY; VARIANTS ILE-167; ALA-399 AND PHE-407; SUBCELLULAR LOCATION;