An identical alphaA-crystallin mutation (R54C) leads to recessive cataracts in humans and mice.
Gong
Xiaohua
X
D000818:Animals; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D003315:Cornea / Q000002:abnormalities*; D003459:Crystallins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D008126:Lod Score; D051379:Mice; D020125:Mutation, Missense; D010375:Pedigree
C511246:CRYAA protein, human; D003459:Crystallins