UniProtKB/Swiss-Prot P49238: Variant p.Thr280Met

CX3C chemokine receptor 1
Gene: CX3CR1
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Variant information Variant position:

280 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 Threonine (T) to Methionine (M) at position 280 (T280M, p.Thr280Met). 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 medium size and polar (T) to medium size and hydrophobic (M) 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:

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 risk factor for ARMD12; impaired antifungal innate immune response; chemotaxis of monocytes of individuals with homozygous Met-280 and Ile-249 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 rs3732378 [ dbSNP | Ensembl ]

Sequence information Variant position:

280 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:

DFFPSCDMRKDLRLALSVTE T VAFSHCCLNPLIYAFAGEKF 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                         DFFPSCDMRKDLRLALSVTETVAFSHCCLNPLIYAFAGEKF

Mouse                         NFFPSCDMKRDLRLALSVTETVAFSHCCLNPFIYAFAGEKF

Rat                           NFFPSCGMKRDLRWALSVTETVAFSHCCLNPFIYAFAGEKF

Bovine                        DFFPKCDVKRDLKLAISVTETIAFSHCCLNPLIYAFAGEKF

Rabbit                        GFFPNCDMKRDLRLALSVTETVAFSHCCLNPLIYAFAGQKF

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	274 – 297	Helical; Name=7
Helix	267 – 288

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; CX3CR1+ mononuclear phagocytes control immunity to intestinal fungi.
Leonardi I.; Li X.; Semon A.; Li D.; Doron I.; Putzel G.; Bar A.; Prieto D.; Rescigno M.; McGovern D.P.B.; Pla J.; Iliev I.D.;
Science 359:232-236(2018)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT 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; 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.