Sequence information
Variant position: 42 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:
FEDVWNSSYGVNDSFPDGDY
G ANLEAAAPCHSCNLLDDSAL
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 FEDVWNSSYGVNDSFPDGDYG ANLEAAAPCHSCNLLDDSAL
Gorilla FEDAWNSSYDVNYSFPDVDYD ANLEAAAPCHSCNLLDDSAL
Rhesus macaque S-DLWNFSYDGNDSFPDVDYD ANLEAAAPCHSCNLLDDSAL
Chimpanzee FEDVWNSSYGVNDSFPDGDYD ANLEAAAPCHSCNLLDDSAL
Mouse F-DSWNYSFEDNYSY-ELSSD YSLTPAAPCYSCNLLDRSSL
Bovine IKEDFLIDFPEDY-YPDYN-E TDVEAAAPCHSCSLLNYSSL
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
Topological domain
1 – 63
Extracellular
Glycosylation
33 – 33
N-linked (GlcNAc...) asparagine
Literature citations
Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite.
Chaudhuri A.; Polyakova J.; Zbrzezna V.; Williams K.; Gulati S.; Pogo A.;
Proc. Natl. Acad. Sci. U.S.A. 90:10793-10797(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANT ASP-42;
Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals.
Tournamille C.; Colin Y.; Cartron J.-P.; Le van Kim C.;
Nat. Genet. 10:224-228(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASP-42;
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;
Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism.
Tournamille C.; Le van Kim C.; Gane P.; Cartron J.-P.; Colin Y.;
Hum. Genet. 95:407-410(1995)
Cited for: VARIANT ASP-42;
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.