ABCMdb

PMID: 14709597

Cideciyan AV, Aleman TS, Swider M, Schwartz SB, Steinberg JD, Brucker AJ, Maguire AM, Bennett J, Stone EM, Jacobson SG
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
Hum Mol Genet. 2004 Mar 1;13(5):525-34. Epub 2004 Jan 6., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCA4 p.Gly1961Glu ABCA4 p.Glu1122Lys ABCA4 p.Arg2149Leu Of interest were four compound heterozygotes with G1961E change in one allele (P6, P11, P12, P15): those with frameshift mutations in the second allele (2005delAT or 4531insC) showed less degeneration at older ages (55 and 29, respectively) than those with point mutations (R2149L or E1122K) at younger ages (48 and 19, respectively). Login to comment 46 ABCA4 p.Arg2107His ABCA4 p.Arg408* ABCA4 p.Val849Ala ABCA4 p.Val849Ala Similarly, a compound heterozygote (P4) with V849A and R408X mutations showed less severe disease than a patient (P7) with V849A and R2107H changes. Login to comment 47 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Ala1038Val ABCA4 p.Asn965Ser ABCA4 p.Asn965Ser ABCA4 p.Asn965Ser ABCA4 p.Asn965Ser ABCA4 p.Glu1087Lys ABCA4 p.Gly818Glu Alleles demonstrated to have major abnormalities in vitro (7) could result in mild disease (P10: E1087K/G1961E) or severe disease (P5: G818E/ L541Pþ A1038V; or P9: N965S/N965S). Login to comment