UniProtKB/Swiss-Prot Q16570: Variant p.Ala100Thr

Atypical chemokine receptor 1
Gene: ACKR1
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Variant information Variant position:

100 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 Alanine (A) to Threonine (T) at position 100 (A100T, p.Ala100Thr). 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 hydrophobic (A) to medium size and polar (T) 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:

DARC is responsible for the Duffy blood group system (FY) [MIM:110700]. The molecular basis of the Fy(A)=Fy1/Fy(B)=Fy2 blood group antigens is a single variation in position 42; Gly-42 corresponds to Fy(A) and Asp-42 to Fy(B). Individuals that do not produce the Duffy antigen (FY(A-B-)) are more resistant to infection by the malarial parasite Plasmodium vivax. This allele is found predominantly in population of African origin [MIM:611162].Genetic variations in DARC define the white blood cell count quantitative trait locus 1 (WBCQ1) [MIM:611862]. Peripheral white blood cell count (WBC) is a common clinical measurement, used to determine evidence of acute inflammation or infection. Peripheral WBC is the sum of several cell types including neutrophils and lymphocytes, which are the most common types of WBC, as well as less common cell types such as eosinophils, basophils, and monocytes. Elevated WBC has been associated with risk of coronary heart disease, cancer, and all-cause mortality. White blood cell levels have widespread clinical applications including assessment of patients undergoing chemotherapy and evaluation of infection. - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs13962 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LFMLFRPLFRWQLCPGWPVL A QLAVGSALFSIVVPVLAPGL 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                         LFMLFRPLFRWQLCPGWPVLAQLAVGSALFSIVVPVLAPGL

Gorilla                       LFILFRPLFRWQLCPGWPVLAQLAVGSALFSIVVPILAPGL

Rhesus macaque                LFMFFRPLFHWQLCPGWPVLAQLAVGSALFSIVVPILAPGL

Chimpanzee                    LFMLFRPLFRWQLCPGWPVLAQLAVGSALFSIVVPILAPGL

Mouse                         LFAILRPFFHWQICPSWPILAELAVGSALFSIAVPILAPGL

Bovine                        LYALLRPLFRWQLYQDRSTLVQLAVGSALFSIVVPILARGL

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 – 336	Atypical chemokine receptor 1
Transmembrane	96 – 116	Helical; Name=2
Disulfide bond	51 – 276

Literature citations
Arg89Cys substitution results in very low membrane expression of the Duffy antigen/receptor for chemokines in Fy(x) individuals.
Tournamille C.; Le Van Kim C.; Gane P.; Le Pennec P.Y.; Roubinet F.; Babinet J.; Cartron J.-P.; Colin Y.;
Blood 92:2147-2156(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2); VARIANTS ASP-42; CYS-89 AND THR-100; The Fy(x) phenotype is associated with a missense mutation in the Fy(b) allele predicting Arg89Cys in the Duffy glycoprotein.
Olsson M.L.; Smythe J.S.; Hansson C.; Poole J.; Mallinson G.; Jones J.; Avent N.D.; Daniels G.;
Br. J. Haematol. 103:1184-1191(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-42; CYS-89 AND THR-100;

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.