Bestrophin 1

Alternative Names

BEST1
VMD2 Gene
TU15B

Length

18,794 bases

No. of Exons

No. of isoforms

Protein Name

Bestrophin-1

Molecular Mass

67684 Da

Amino Acid Count

585

Genomic Location

chr11:61,946,721-61,965,514

Gene Map Locus

11q12.3

Description

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. [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_004183.4:c.11C>T	United Arab Emirates	NC_000011.10:g.61951817C>T	Pathogenic	Likely Pathogenic	Macular Dystrophy, Vitelliform, 2	NG_009033.1:g.6934C>T; NM_004183.4:c.11C>T; NP_004174.1:p.Thr4Ile	368383940	870721
NM_004183.4:c.1403C>T	Lebanon	NC_000011.10:g.61962557C>T	Uncertain Significance	Pathogenic	Bestrophinopathy, Autosomal Recessive	NG_009033.1:g.17674C>T; NM_004183.4:c.1403C>T; NP_004174.1:p.Pro468Leu	747043918	1297719
NM_004183.4:c.209A>G	Lebanon	chr11:61955163		Pathogenic	Bestrophinopathy, Autosomal Recessive	NG_009033.1:g.10280A>G; NM_004183.4:c.209A>G; NP_004174.1:p.Asp70Gly	749295558
NM_004183.4:c.37C>T	United Arab Emirates	NC_000011.10:g.61951843C>T	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Macular Dystrophy, Vitelliform, 2	NG_009033.1:g.6960C>T; NM_004183.4:c.37C>T; NP_004174.1:p.Arg13Cys	886041141	279701
NM_004183.4:c.830C>T	Lebanon	chr11:61958261	Pathogenic	Pathogenic	Bestrophinopathy, Autosomal Recessive	NG_009033.1:g.13378C>T; NM_004183.4:c.830C>T; NP_004174.1:p.Thr277Met	775791299	860652

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External Links

https://medlineplus.gov/genetics/gene/best1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST1

Contributors

Asha Deepthi: 16.05.2021
Sayeeda Hana: 25.09.2020

Edit History

Asha Deepthi: 16.05.2021
Sayeeda Hana: 25.09.2020

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