UniProtKB/Swiss-Prot Q86VB7: Variant p.Ile342Val

Scavenger receptor cysteine-rich type 1 protein M130
Gene: CD163
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Variant information Variant position:

342 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 Isoleucine (I) to Valine (V) at position 342 (I342V, p.Ile342Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs4883263 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1156 The length of the canonical sequence.
Location on the sequence:

SKGFGHIWLDSVSCQGHEPA I WQCKHHEWGKHYCNHNEDAG 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                         SKGFGHIWLDSVSCQGHEPAIWQCKHHEWGKHYCNHNEDAG

                              SEGSGHIWLDNLSCQGDESALWQCRHHEWGKHYCNHNEDAG

Mouse                         SEGSGQIWLDNISCEGHEATLWECKHQEWGKHYCHHREDAG

Pig                           SEGTGHIWLDSVSCHGHESALWQCRHHEWGKHYCNHDEDAG

Bovine                        SEGTGHIWLDSVSCQGHESAVWQCRHHEWGKHYCNHNEDAG

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	42 – 1156	Scavenger receptor cysteine-rich type 1 protein M130
Topological domain	42 – 1050	Extracellular
Domain	266 – 366	SRCR 3
Disulfide bond	291 – 355
Disulfide bond	304 – 365
Disulfide bond	335 – 345

Literature citations
A new macrophage differentiation antigen which is a member of the scavenger receptor superfamily.
Law S.K.A.; Micklem K.J.; Shaw J.M.; Zhang X.-P.; Dong Y.; Willis A.C.; Mason D.Y.;
Eur. J. Immunol. 23:2320-2325(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4); VARIANT VAL-342; Genomic organization and chromosomal localization of the human CD163 (M130) gene: a member of the scavenger receptor cysteine-rich superfamily.
Ritter M.; Buechler C.; Langmann T.; Schmitz G.;
Biochem. Biophys. Res. Commun. 260:466-474(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-342; Scavenger receptor cd163 is a cell permissive factor for infection with porcine reproductive and respiratory syndrome viruses.
Welch S.-K.W.; Calvert J.G.; Slade D.E.; Shields S.L.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANT VAL-342; 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 1); VARIANT VAL-342;

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.