UniProtKB/Swiss-Prot Q9H2X3: Variant p.Arg164Gln

C-type lectin domain family 4 member M
Gene: CLEC4M
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Variant information Variant position:

164 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 Arginine (R) to Glutamine (Q) at position 164 (R164Q, p.Arg164Gln). 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 large size and basic (R) to medium size and polar (Q) 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
Polymorphism:

The number of repeats in the tandem repeat domain is shown to vary between 3 and 9 per allele thus contributing to a further variability in addition to alternative splicing. The shown 7 repeat-containing form has been shown to be the most frequent one (53.9%) in a study with 350 Caucasian individuals. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs11465376 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AAVGELPEKSKLQEIYQELT R LKAAVGELPEKSKLQEIYQE 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                         AAVGELPEKSKLQEIYQELTRLKAAVGELPEKSKLQEIYQE

Gorilla                       AAVGELPEKSKLQEIYQELTQLKAAVGELPEKSKLQEIYQE

Chimpanzee                    AAVGELPEKSKLQEIYQELTQLKAAVGELPEKSKLQEIYQE

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	1 – 399	C-type lectin domain family 4 member M
Topological domain	71 – 399	Extracellular
Repeat	154 – 176	3
Region	108 – 269	7 X approximate tandem repeats
Alternative sequence	147 – 261	Missing. In isoform 7.

Literature citations
Extensive repertoire of membrane-bound and soluble dendritic cell-specific ICAM-3-grabbing nonintegrin 1 (DC-SIGN1) and DC-SIGN2 isoforms. Inter-individual variation in expression of DC-SIGN transcripts.
Mummidi S.; Catano G.; Lam L.; Hoefle A.; Telles V.; Begum K.; Jimenez F.; Ahuja S.S.; Ahuja S.K.;
J. Biol. Chem. 276:33196-33212(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 4; 5; 6 AND 7); ALTERNATIVE SPLICING (ISOFORM 3); POLYMORPHISM; VARIANT GLN-164;

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.