ABCMdb

PMID: 12960208

Michaelides M, Hunt DM, Moore AT
The genetics of inherited macular dystrophies.
J Med Genet. 2003 Sep;40(9):641-50., [PubMed]

Sentences

No. Mutations Sentence Comment

335 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro It is currently believed that: (1) homozygous null mutations cause the most severe phenotype of autosomal recessive RP; (2) combinations of a null mutation with a moderate missense mutation result in autosomal recessive CORD, and (3) combinations of null/mild missense or two moderate missense mutations cause STGD/FFM.28 Assessment of functional activity of mutant ABCA4 transporter has been performed by Sun et al.27 For example the missense mutations, L541P and G1961E, are associated with severely reduced but not abolished ATPase activity, whereas nonsense mutations would be predicted to have a more severe effect on protein function. Login to comment