UniProtKB/SwissProt variant VAR

C-C chemokine receptor type 2
Gene: CCR2
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Variant information Variant position:

119
Type of variant:

LP/P [Disclaimer]
Residue change:

From Leucine (L) to Arginine (R) at position 119 (L119R, p.Leu119Arg).
Physico-chemical properties:

Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In PCLUD; likely pathogenic; loss of CCL2 or CCL13 cytokine-mediated signaling pathway; loss of expression at the cell surface; contrary to wild-type, does not rescue CCL2 or CCL13 cytokine-mediated calcium mobilization and cell migration, when transfected in CCR2-null monocytic THP-1 cells.
Other resources:

Variant rs113340633 [ dbSNP | Ensembl ]

Sequence information Variant position:

119
Protein sequence length:

374
Location on the sequence:

AHSAANEWVFGNAMCKLFTG L YHIGYFGGIFFIILLTIDRY
Residue conservation:

Human                         AHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRY

Rhesus macaque                AHSAANEWVFGNAMCKLFTGLYHIGYLGGIFFIILLTIDRY

Mouse                         AHYAANEWVFGNIMCKVFTGLYHIGYFGGIFFIILLTIDRY

Rat                           AHYAANEWVFGNIMCKLFTGLYHIGYFGGIFFIILLTIDRY

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 374	C-C chemokine receptor type 2
Transmembrane	115 – 136	Helical; Name=3
Modified residue	139 – 139	Phosphotyrosine; by JAK2
Disulfide bond	113 – 190
Helix	110 – 142

Literature citations
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus A.L.; Carey B.; Landekic M.; Panikulam P.; Deutsch G.; Ogishi M.; Arango-Franco C.A.; Philippot Q.; Modaresi M.; Mohammadzadeh I.; Corcini Berndt M.; Rinchai D.; Le Voyer T.; Rosain J.; Momenilandi M.; Martin-Fernandez M.; Khan T.; Bohlen J.; Han J.E.; Deslys A.; Bernard M.; Gajardo-Carrasco T.; Soudee C.; Le Floc'h C.; Migaud M.; Seeleuthner Y.; Jang M.S.; Nikolouli E.; Seyedpour S.; Begueret H.; Emile J.F.; Le Guen P.; Tavazzi G.; Colombo C.N.J.; Marzani F.C.; Angelini M.; Trespidi F.; Ghirardello S.; Alipour N.; Molitor A.; Carapito R.; Mazloomrezaei M.; Rokni-Zadeh H.; Changi-Ashtiani M.; Brouzes C.; Vargas P.; Borghesi A.; Lachmann N.; Bahram S.; Crestani B.; Pahari S.; Schlesinger L.S.; Marr N.; Bugonovic D.; Boisson-Dupuis S.; Beziat V.; Abel L.; Borie R.; Young L.R.; Deterding R.; Shahrooei M.; Rezaei N.; Parvaneh N.; Craven D.; Gros P.; Malo D.; Sepulveda F.E.; Nogee L.M.; Aladjidi N.; Trapnell B.C.; Casanova J.L.; Bustamante J.;
Cell 187:390-408(2024)
Cited for: INVOLVEMENT IN PCLUD; VARIANTS PCLUD ARG-61; ARG-119; 214-PRO-LEU-215 DEL AND ASN-296; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS PCLUD ARG-61; ARG-119; 214-PRO-LEU-215 DEL AND ASN-296; VARIANTS ILE-64; PHE-133; LEU-316 AND ASP-355; CHARACTERIZATION OF VARIANTS ILE-64; PHE-133; LEU-316 AND ASP-355;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P41597: Variant p.Leu119Arg