UniProtKB/Swiss-Prot P49238: Variant p.Val249Ile

CX3C chemokine receptor 1
Gene: CX3CR1
Feedback?

Variant information Variant position:

249 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 Valine (V) to Isoleucine (I) at position 249 (V249I, p.Val249Ile). 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
Polymorphism:

Variations in CX3CR1 are associated with rapid progression to AIDS [MIM:609423]. Increased susceptibility to HIV infection and rapid progression to AIDS are associated with the Ile-249/Met-280 haplotype. Additional information on the polymorphism described.
Variant description:

Probable protective factor against acute coronary artery disease; probable risk factor for ARMD12; chemotaxis of monocytes of individuals with homozygous Ile-249 and Met-280 genotypes is impaired in the presence of bound CX3CR1 protein. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3732379 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AIKLILLVVIVFFLFWTPYN V MIFLETLKLYDFFPSCDMRK 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                         AIKLILLVVIVFFLFWTPYNVMIFLETLKLYDFFPSCDMRK

Mouse                         AVRLILLVVFAFFLFWTPYNIMIFLETLKFYNFFPSCDMKR

Rat                           AIRLILLVVVVFFLFWTPYNIVIFLETLKFYNFFPSCGMKR

Bovine                        AIRLIFLVVVVFFLFWTPYNVMIFLQTLNLYDFFPKCDVKR

Rabbit                        AIKLILLVVIVFFLFWTPYNVMIFLETLKLYGFFPNCDMKR

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 – 355	CX3C chemokine receptor 1
Transmembrane	232 – 256	Helical; Name=6
Helix	228 – 258

Literature citations
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-185 (ISOFORM 4); VARIANTS ILE-249 AND MET-280; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASP-13; ILE-249 AND MET-280; Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.
Faure S.; Meyer L.; Costagliola D.; Vaneensberghe C.; Genin E.; Autran B.; Delfraissy J.-F.; McDermott D.H.; Murphy P.M.; Debre P.; Theodorou I.; Combadiere C.;
Science 287:2274-2277(2000)
Cited for: VARIANTS ALA-57; ILE-122; ILE-249 AND MET-280; Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease.
Moatti D.; Faure S.; Fumeron F.; Amara M.E.-W.; Seknadji P.; McDermott D.H.; Debre P.; Aumont M.C.; Murphy P.M.; de Prost D.; Combadiere C.;
Blood 97:1925-1928(2001)
Cited for: VARIANT ILE-249; The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration.
Tuo J.; Smith B.C.; Bojanowski C.M.; Meleth A.D.; Gery I.; Csaky K.G.; Chew E.Y.; Chan C.C.;
FASEB J. 18:1297-1299(2004)
Cited for: VARIANTS ILE-249 AND MET-280; ASSOCIATION WITH ARMD12; CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration.
Combadiere C.; Feumi C.; Raoul W.; Keller N.; Rodero M.; Pezard A.; Lavalette S.; Houssier M.; Jonet L.; Picard E.; Debre P.; Sirinyan M.; Deterre P.; Ferroukhi T.; Cohen S.Y.; Chauvaud D.; Jeanny J.C.; Chemtob S.; Behar-Cohen F.; Sennlaub F.;
J. Clin. Invest. 117:2920-2928(2007)
Cited for: CHARACTERIZATION OF VARIANTS ILE-249 AND MET-280; EFFECT ON CHEMOTAXIS OF MONOCYTES OF ARMD12 PATIENTS;

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.