UniProtKB/Swiss-Prot A5D8T8: Variant p.Ser339Arg

C-type lectin domain family 18 member A
Gene: CLEC18A
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Variant information Variant position:

339 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 Serine (S) to Arginine (R) at position 339 (S339R, p.Ser339Arg). 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 small size and polar (S) to large size and basic (R) 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
Variant description:

In allele CLEC18A-1; abolishes binding to polysaccharides. Any additional useful information about the variant.

Sequence information Variant position:

339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

446 The length of the canonical sequence.
Location on the sequence:

TYYRARMKCQRKGGVLAQIK S QKVQDILAFYLGRLETTNEV 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                         TYYRARMKCQRKGGVLAQIKSQKVQDILAFYLGRLETTNEV

Mouse                         TYYGAKMKCQGKGGVLAQIESQKVQDILAFYLGRLETTNEV

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	27 – 446	C-type lectin domain family 18 member A
Domain	306 – 433	C-type lectin
Disulfide bond	327 – 432
Alternative sequence	1 – 340	Missing. In isoform 2.

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] (ISOFORMS 1 AND 2); VARIANTS ALA-118; MET-151 AND ARG-339; Human CLEC18 gene cluster contains C-type lectins with differential glycan-binding specificity.
Huang Y.L.; Pai F.S.; Tsou Y.T.; Mon H.C.; Hsu T.L.; Wu C.Y.; Chou T.Y.; Yang W.B.; Chen C.H.; Wong C.H.; Hsieh S.L.;
J. Biol. Chem. 290:21252-21263(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS ALA-118; MET-151 AND ARG-339; GLYCOSYLATION; MUTAGENESIS OF ASP-421; CHARACTERIZATION OF VARIANT ARG-339;

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.