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UniProtKB/Swiss-Prot Q8WXG9: Variant p.Leu2004Phe

Adhesion G-protein coupled receptor V1
Gene: ADGRV1
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Variant information Variant position: help 2004
Type of variant: help LB/B
Residue change: help From Leucine (L) to Phenylalanine (F) at position 2004 (L2004F, p.Leu2004Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and aromatic (F)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 2004
Protein sequence length: help 6306
Location on the sequence: help KNRPVKVEEATQNITLSIIR L KGLMGKVLVSYATLDDMEKP
Residue conservation: help 
Human                         KNRPVKVEEATQNITLSIIRLKGLMGKVLVSYATLDDMEKP

Mouse                         KTRPLSVEEATQNVALSIIRLKGLMGEVAVSYATIDDMEKP

Zebrafish                     NTRPVRVAEANALVALTIQRRKGLMGRVRVAYRTLRDTDTV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 30 – 6306 Adhesion G-protein coupled receptor V1
Chain 30 – 5890 ADGRV1 subunit alpha
Topological domain 30 – 5908 Extracellular
Domain 1966 – 2079 Calx-beta 14
Alternative sequence 1 – 4339 Missing. In isoform 2.
Alternative sequence 1467 – 6306 Missing. In isoform 4.



Literature citations
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
Weston M.D.; Luijendijk M.W.J.; Humphrey K.D.; Moeller C.; Kimberling W.J.;
Am. J. Hum. Genet. 74:357-366(2004)
Cited for: INVOLVEMENT IN USH2C; VARIANTS ARG-127; LYS-249; PHE-1093; MET-1927; ILE-1951; ASP-1985; LEU-1987; PHE-2004; CYS-2232; SER-2345; ALA-2379; SER-2584; LEU-2764; THR-2803; VAL-3217; ASP-3248; LYS-3471 AND GLY-5344;
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.