USH2A gene

Alternative Names

USH2A
Usherin
USH2
US2

Length

800,558 bases

No. of Exons

No. of isoforms

Protein Name

Usherin

Molecular Mass

575600 Da

Amino Acid Count

5202

Genomic Location

chr1:215,622,890-216,423,447

Gene Map Locus

1q41

Description

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. [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_206933.2:c.11907del	Lebanon	NC_000001.11:g.215728189del		Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.700260A>T; NM_206933.2:c.11907del; NP_996816.2:p.Ala3970LeufsTer14
NM_206933.2:c.1923T>A	Jordan	NC_000001.11:g.216289328A>T	Pathogenic	Pathogenic	Retinitis Pigmentosa 39	NG_009497.1:g.139069T>A; NM_206933.2:c.1923T>A; NP_996816.2:p.Cys641Ter		979000
NM_206933.2:c.4033G>C	Saudi Arabia	chr1:216198363	Pathogenic	Pathogenic	Retinitis Pigmentosa 39	NG_009497.1:g.230034G>C; NM_206933.2:c.4033G>C; NP_996816.2:p.Ala1345Pro		979016
NM_206933.2:c.4707T>G	Lebanon	NC_000001.11:g.216097134A>C	Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.331315T>G; NM_206933.2:c.4707T>G; NP_996816.2:p.Tyr1569Ter		867170
NM_206933.4:c.10342G>A	United Arab Emirates	NC_000001.11:g.215786715C>T	Likely Pathogenic, Pathogenic	Pathogenic	Retinitis Pigmentosa 39	NG_009497.2:g.641734G>A; NM_206933.4:c.10342G>A; NP_996816.3:p.Glu3448Lys	368049814	209203
NM_206933.4:c.11390-1G>A	Lebanon	NC_000001.11:g.215743336C>T	Likely Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.685113G>A; NM_206933.4:c.11390-1G>A; NP_996816.3:p.?	2102727580	1067000
NM_206933.4:c.13547G>T	United Arab Emirates	NC_000001.11:g.215674364C>A		Pathogenic	Retinitis Pigmentosa 39	NG_009497.2:g.754085G>T; NM_206933.4:c.13547G>T; NP_996816.3:p.Gly4516Val
NM_206933.4:c.1367T>A	United Arab Emirates	NC_000001.11:g.216323657A>T		Uncertain Significance	Usher Syndrome, Type IIA	NG_009497.2:g.104792T>A; NM_206933.4:c.1367T>A; NP_996816.3:p.Ile456Asn	774820032
NM_206933.4:c.14031dup	Lebanon	NC_000001.11:g.215671074dup	Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.757375dup; NM_206933.4:c.14031dup; NP_996816.3:p.Ala4678fs	397517988	48426
NM_206933.4:c.14424C>A	Lebanon	NC_000001.11:g.215648686G>T	Likely Pathogenic, Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.779763C>A; NM_206933.4:c.14424C>A; NP_996816.3:p.Cys4808Ter	1553250184	552628
NM_206933.4:c.2276G>T	Saudi Arabia	NC_000001.11:g.216247118C>A	Pathogenic	Pathogenic	Retinitis Pigmentosa 39	NG_009497.2:g.181331G>T; NM_206933.4:c.2276G>T; NP_996816.3:p.Cys759Phe	80338902	2356
NM_206933.4:c.3045C>G	United Arab Emirates	NC_000001.11:g.216217499G>C	Uncertain Significance	Uncertain Significance	Usher Syndrome, Type IIA	NG_009497.2:g.210950C>G; NM_206933.4:c.3045C>G; NP_996816.3:p.His1015Gln	541918040	179958
NM_206933.4:c.3812-3_3837dup	United Arab Emirates	NC_000001.11:g.216198560_216198588dup	Likely Benign, Likely Pathogenic, Uncertain Significance	Likely Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.229862_229890dup; NM_206933.4:c.3812-3_3837dup; NP_996816.3:p.?	780071028	420502
NM_206933.4:c.4429G>T	Saudi Arabia	NC_000001.11:g.216175450C>A	Likely Pathogenic	Likely Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.252999G>T; NM_206933.4:c.4429G>T; NP_996816.3:p.Gly1477Ter	786205452	190994
NM_206933.4:c.486-1G>C	Saudi Arabia	chr1:216418680	Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.9769G>C; NM_206933.4:c.486-1G>C	876657730	228413
NM_206933.4:c.532dup	Lebanon	NC_000001.11:g.216418633dup	Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.9816dup; NM_206933.4:c.532dup; NP_996816.3:p.Thr178fs	1571801788	813346
NM_206933.4:c.5776+1G>A	Saudi Arabia	NC_000001.11:g.216073096C>T	Pathogenic	Pathogenic	Retinitis Pigmentosa 39	NG_009497.2:g.355353G>A; NM_206933.4:c.5776+1G>A; NP_996816.3:p.?	876657731	228414
NM_206933.4:c.784+14389G>T	United Arab Emirates	NC_000001.11:g.216350564C>A	Likely Pathogenic	Likely Pathogenic	Retinitis Pigmentosa 39	NG_009497.2:g.77885G>T; NM_206933.4:c.784+14389G>T; NP_996816.3:p.?		2504073
NM_206933.4:c.842C>A	Saudi Arabia	NC_000001.11:g.216327597G>T	Likely Pathogenic, Pathogenic	Pathogenic	Retinitis Pigmentosa 39	NG_009497.2:g.100852C>A; NM_206933.4:c.842C>A; NP_996816.3:p.Thr281Lys	2037760415	979017
NM_206933.4:c.8681G>A	Jordan; Lebanon	NC_000001.11:g.215877758C>T	Likely Pathogenic, Pathogenic	Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.550691G>A; NM_206933.4:c.8681G>A; NP_996816.3:p.Arg2894Lys	1369414978	495329
NM_206933.4:c.9860_9873del	United Arab Emirates	NC_000001.11:g.215798993_215799006del	Likely Pathogenic, Pathogenic	Likely Pathogenic	Usher Syndrome, Type IIA	NG_009497.2:g.629444_629457del; NM_206933.4:c.9860_9873del; NP_996816.3:p.His3287ProfsTer54	1388040238	438035

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Contributors

Asha Deepthi: 21.08.2024
Sayeeda Hana: 01.07.2020

Edit History

Asha Deepthi: 21.08.2024
Sayeeda Hana: 01.07.2020

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