Adhesion G Protein-Coupled Receptor V1

Alternative Names

ADGRV1
G Protein-Coupled Receptor 98
GPR98
Monogenic Audiogenic Seizure Suscpetibility 1, MOuse Homolog of
MASS1
Very Large G Protein-Coupled Receptor 1
VLGR1
KIAA0686

Length

635,094 bases

No. of Exons

No. of isoforms

Protein Name

Adhesion G-protein coupled receptor V1

Molecular Mass

693069 Da

Amino Acid Count

6306

Genomic Location

chr5:90,529,344-91,164,437

Gene Map Locus

5q14.3

Description

This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_032119.3:c.17756-2239_17856+11701delinsTAGACAGGGTTTCACC	Lebanon	NC_000005.10:g.90861518_90875558delinsTAGACAGGGTTTCACC		Pathogenic	Usher Syndrome, Type IIC	NG_007083.1:g.307719_321759delinsTAGACAGGGTTTCACC; NM_032119.3:c.17756-2239_17856+11701delinsTAGACAGGGTTTCACC
NM_032119.4:c.1477C>T	United Arab Emirates	NC_000005.10:g.90628800C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Usher Syndrome, Type IIC	NG_007083.2:g.104457C>T; NM_032119.4:c.1477C>T; NP_115495.3:p.Arg493Ter	779948710	1064951
NM_032119.4:c.16040del	Lebanon	NC_000005.10:g.90811300del		Pathogenic	Usher Syndrome, Type IIC	NG_007083.2:g.286957del; NM_032119.4:c.16040del; NP_115495.3:p.Asp5347fs	1561783623
NM_032119.4:c.1849G>A	United Arab Emirates	NC_000005.10:g.90635123G>A	Benign, Likely Benign, Uncertain Significance	Uncertain Significance		NG_007083.2:g.110780G>A; NM_032119.4:c.1849G>A; NP_115495.3:p.Val617Met	199988872	137500
NM_032119.4:c.5643del	Lebanon	chr5:90681433	Pathogenic	Pathogenic	Usher Syndrome, Type IIC	NG_007083.2:g.157090del; NM_032119.4:c.5643del; NP_115495.3:p.Tyr1882fs	727503076	163578
NM_032119.4:c.6994A>T	United Arab Emirates	NC_000005.10:g.90692647A>T	Benign, Likely Benign, Uncertain Significance	Uncertain Significance		NG_007083.2:g.168304A>T; NM_032119.4:c.6994A>T; NP_115495.3:p.Ile2332Phe		46359

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ADGRV1&keywords=ADGRV1 https://www.ncbi.nlm.nih.gov/gene/84059

Contributors

Pratibha Nair: 09.11.2020

Edit History

Pratibha Nair: 26.04.2021
Pratibha Nair: 09.11.2020

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