Locus | Gene | Protein | Mutation | No of mutations | Phenotype | OMIM No | Reference |
1q21-q25 | GJA8 | Connexin 50 | Missense | 2 | Pulverulent | 600897 (11622) | 41 |
2q33-q35 | CRYGC | γC-crystallin | Missense2-150 | 1 | Coppock-like | 604307 (123660) | 49, 50 |
2q33-q35 | CRYGC | γC-crystallin | Missense | 1 | Aceuliform | 604307 | 50 |
2q33-q35 | CRYGD | γD-crystallin | Missense | 1 | Nuclear | 123690 | 51 |
10q24-25 | PITX3 | Pitx3 | Missense | 1 | Total | 602669 | 37 |
13q11-q13 | GJA3 | Connexin 46 | Missense | 2 | Pulverulent | 121015 (601885) | 43 |
17q11.1-q12 | CRYBA1 | βA3 crystallin | Splice site | 1 | Sutural | 600881 | 54 |
21q22.3 | CRYAA | αA-crystallin | Missense | 1 | Zonular central nuclear | 123580 | 56 |
22q11.2 | CRYBB2 | βB2-crystallin | Chain termination | 1 | Cerulean | 123620 (601547) | 52 |
22q11.2 | CRYBB2 | βB2-crystallin | Missense | 1 | Coppock-like | 604307 | 53 |
OMIM refers to Online Mendelian Inheritance in Man (http://www3.ncbi.nih.gov/Omim/searchomain.html)
↵2-150 Re-examination of the original data suggests that the sequence changes noted originally in the γE-pseudogene may not be the cause of the cataract.50