Table 2

Variants of crystallin genes detected in cataract families

GeneExon/intronPosition*Base changeExpected effect on proteinSegregation with cataract phenotype
*Intron position numbers refer to the number of nucleotides past the 3′ end of the exon.
†This variant is likely to be in the presumed pseudogene CRYBB2–2, rather than CRYBB2.
CRYBA1/A3Intron 3+1G/ASplice SiteYes
CRYBA1/A3Exon 5Codon 152C/TNone (Gly)No
CRYBA1/A3Intron 2+73T/GNoneNo
CRYBA1/A3Intron 3+16C/TNoneNo
CRYBB2†Intron 3+1G/ASplice siteNo
CRYGDExon 2Codon 16C/TNone (Tyr)No
CRYGDExon 2Codon 23C/APro/ThrYes