Table 1 of Devi, Mol Vis 2008; 14:1157-1170.

Table 1. Summary of crystallin mutations identified in south Indian families.

Gene Family ID Base change Amino acid Blosum 80 Age of onset Cataract phenotype Other ocular anomalies Restriction site employed in conformation Controls screened
CRYAA CCW-46 c.104 C>T R12C −6 Birth Nuclear Microcornea ApaLI + 100
CCW-36 c.130 C>T R21W −5 Birth Nuclear Microcornea MspI - 100
CCW-55 c.230 C>T R54C −6 Birth Nuclear Microcornea + Microphthalmous HpyCH4V + 100
CRYAB CCW-22 c.557G>A A171T* 0 Birth Lamellar - HpyF10VI - 100
CRYBA1 CCW-01 IVs3+1G>A - - Birth Lamellar, Floriform (Variable) - Nla III + 100
CCW-57 IVs+1G>A - - Birth Lamellar -
CRYBB2 CCW-19 c.495C>T Q155X −8 5–10 years Cortical + pulverulent - - 50
CRRYGC CCW-33 c.502 C>T R168W −5 Birth Lamellar - - 50
CRYGD CCW-45 c.418C>T R140X* −8 Birth Nuclear - - 100
CRYGS CCW-47 c.168C>G S39C* −2 7–10 years Lamellar, Sutural
(Variable) - HpyF10VI + 100

The asterisk indicates the novel mutations identified in this study. The “+” and “−” indicate the gain and loss of a restriction site as a result of the mutation.

Devi, Mol Vis 2008; 14:1157-1170. http://www.molvis.org/molvis/v14/a137

©2008 Molecular Vision http://www.molvis.org/molvis/

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