Crumbs, Drosophila, Homolog of, 1

Alternative Names

  • CRB1
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OMIM Number

604210

NCBI Gene ID

23418

Uniprot ID

P82279

Length

276,994 bases

No. of Exons

17

No. of isoforms

5

Protein Name

Protein Crumbs Homolog 1

Molecular Mass

154183 Da

Amino Acid Count

1406

Genomic Location

chr1:197,201,462-197,478,455

Gene Map Locus
1q31.3

Description

The CRB1 gene is expressed in the retina and iris, where it is responsible for the apicobasal polarity of the neuroepithelium and later, the photoreceptor cell. Defects in the CRB1 protein are associated with a severe form of retinitis pigmentosa, RP12, and with Leber Congenital Amaurosis 8.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001257966.1:c.1733T>APalestinechr1:197421561PathogenicLeber Congenital Amaurosis 8NG_008483.2:g.225100T>A; NM_001257966.1:c.1733T>A; NP_001244895.1:p.Val578Glu1266363944
NM_001257966.1:c.1842delTPalestinechr1:197421670PathogenicLeber Congenital Amaurosis 8NG_008483.2:g.225209delT; NM_001257966.1:c.1842delT; NP_001244895.1:p.Gly614Glyfs*6
NM_001257966.1:c.1844G>TPalestineNC_000001.11:g.197421672G>TLikely Pathogenic, Uncertain SignificancePathogenicRetinitis Pigmentosa 12NG_008483.2:g.225211G>T; NM_001257966.1:c.1844G>T; NP_001244895.1:p.Gly615Val768905244812299
NM_001257966.1:c.455G>APalestineNC_000001.11:g.197328806G>ALikely Pathogenic, PathogenicPathogenicLeber Congenital Amaurosis 8NG_008483.2:g.132345G>A; NM_001257966.1:c.455G>A; NP_001244895.1:p.Cys152Tyr1571848744812296
NM_201253.2:c.1345C>TLebanonNC_000001.11:g.197421173C>TPathogenicLeber Congenital Amaurosis 8NG_008483.1:g.157896C>T; NM_201253.2:c.1345C>T; NP_957705.1:p.Gln449Ter
NM_201253.2:c.1772_1775delLebanonNC_000001.11:g.197421600_197421603delPathogenicPathogenicLeber Congenital Amaurosis 8; Retinitis Pigmentosa 12NG_008483.2:g.225139_225142del; NM_201253.2:c.1772_1775del; NP_957705.1:p.Cys591SerfsTer291664325377867150
NM_201253.2:c.2234C>TLebanon; Palestine; Sa...chr1:197427559Likely Pathogenic, PathogenicPathogenicLeber Congenital Amaurosis 8; Retinitis Pigmentosa 12NG_008483.2:g.231098C>T; NM_201253.2:c.2234C>T; NP_957705.1:p.Thr745Met289397205733
NM_201253.2:c.3159T>GSaudi Arabiachr1:197435022PathogenicRetinitis Pigmentosa 12NG_008483.2:g.238561T>G; NM_201253.2:c.3159T>G; NP_957705.1:p.Cys1053Trp
NM_201253.2:c.80G>CSaudi ArabiaNC_000001.11:g.197328431G>CPathogenicPathogenicRetinitis Pigmentosa 12NG_008483.2:g.131970G>C; NM_201253.2:c.80G>C; NP_957705.1:p.Cys27Ser1460946384978990
NM_201253.3:c.2024G>ASaudi ArabiaNC_000001.11:g.197421852G>APathogenicLeber Congenital Amaurosis 8NG_008483.2:g.225391G>A; NM_201253.3:c.2024G>A; NP_957705.1:p.Trp675Ter978992
NM_201253.3:c.2234C>TUnited Arab EmiratesNC_000001.11:g.197427559C>TPathogenicLikely PathogenicLeber Congenital Amaurosis 8; Retinitis Pigmentosa 12NG_008483.2:g.231098C>T; NM_201253.3:c.2234C>T; NP_957705.1:p.Thr745Met289397205733
NM_201253.3:c.2498G>AIraqNC_000001.11:g.197427823G>APathogenicPathogenicRetinitis Pigmentosa 12NG_008483.2:g.231362G>A; NM_201253.3:c.2498G>A; NP_957705.1:p.Gly833Asp1571540258812300
NM_201253.3:c.2505_2508delUnited Arab EmiratesNC_000001.11:g.197427830_197427833delPathogenicLikely Pathogenic, Uncertain SignificanceRetinitis Pigmentosa 12NG_008483.2:g.231369_231372del; NM_201253.3:c.2505_2508del; NP_957705.1:p.Pro836ThrfsTer197784197161446299
NM_201253.3:c.2555T>CPalestine; Syriachr1:197427880PathogenicLikely Pathogenic, PathogenicLeber Congenital Amaurosis 8NG_008483.2:g.231419T>C; NM_201253.3:c.2555T>C; NP_957705.1:p.Ile852Thr6263627199883
NM_201253.3:c.2677-7T>AUnited Arab EmiratesNC_000001.11:g.197429442T>ALikely PathogenicLeber Congenital Amaurosis 8NG_008483.2:g.232981T>A; NM_201253.3:c.2677-7T>A; NP_957705.1:p.?
NM_201253.3:c.2911A>GUnited Arab EmiratesNC_000001.11:g.197434774A>GLikely PathogenicLeber Congenital Amaurosis 8NG_008483.2:g.238313A>G; NM_201253.3:c.2911A>G; NP_957705.1:p.Arg971Gly
NM_201253.3:c.3307G>APalestinechr1:197435170PathogenicPathogenicRetinitis Pigmentosa 12NG_008483.2:g.238709G>A; NM_201253.3:c.3307G>A; NP_957705.1:p.Gly1103Arg626362755739
NM_201253.3:c.3447G>CUnited Arab EmiratesNC_000001.11:g.197435310G>CLikely PathogenicLeber Congenital Amaurosis 8NG_008483.2:g.238849G>C; NM_201253.3:c.3447G>C; NP_957705.1:p.Leu1149Phe
NM_201253.3:c.3961T>GUnited Arab EmiratesNC_000001.11:g.197442248T>GLikely PathogenicLikely PathogenicRetinitis Pigmentosa 12NG_008483.2:g.245787T>G; NM_201253.3:c.3961T>G; NP_957705.1:p.Cys1321Gly62635649801602
NM_201253.3:c.4121_4130delPalestinechr1:197477779-197477788PathogenicPathogenicLeber Congenital Amaurosis 8NG_008483.2:g.281318_281327del; NM_201253.3:c.4121_4130del; NP_957705.1:p.Ala1374fs2818651755740
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