CRYBB1

Highest pathogenic variant AF is 0.000019830966

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000215939

Coding exons

5

Length

18811

Individuals with no LoFs

125716

Homozygous LoFs

0

Heterozygous LoFs

32

Defined

125748

p

0.000127

Function

FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.;

Disease

DISEASE: Cataract 17, multiple types (CTRCT17) [MIM:611544]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. {ECO:0000269|PubMed:12360425, ECO:0000269|PubMed:17460281, ECO:0000269|PubMed:23508780}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=CRYBB1 mutations may be a cause of congenital cataract and microcornea syndrome, a disease characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life (PubMed:16110300 and PubMed:21972112). {ECO:0000305|PubMed:16110300, ECO:0000305|PubMed:21972112}.;