ABCMdb

PMID: 9781034

Rozet JM, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
Eur J Hum Genet. 1998 May-Jun;6(3):291-5., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCA4 p.Arg212Cys ABCA4 p.Arg212Cys By contrast, in the second and third families, the grandmothers affected with AMD were found to carry one of the two different mutations identified in their grandsons affected with Stargardt disease (R1107C, family JUL; R212C, family JEG; see Table 1). Login to comment 43 ABCA4 p.Ala1038Val By contrast, all mutations identified in FFM patients were missense mutations involving uncharged amino acids and none of them (except the A1038V mutation) were detected in STGD. Login to comment 44 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Interestingly, the A1038V mutation was found in compound heterozygotes (one STGD, family CHE and one FFM, family VIL), the second mutation being another missense mutation in the FFM family (L541P) but a frameshift mutation in STGD (Table 1). Login to comment 45 ABCA4 p.Ala1038Val ABCA4 p.Arg212Cys ABCA4 p.Leu541Pro ABCA4 p.Thr1019Met ABCA4 p.Gln1332* ABCA4 p.Arg18Trp ABCA4 p.Arg2107His ABCA4 p.Leu1970Phe ABCA4 p.Arg1640Trp ABCA4 p.Ile2113* ABCA4 p.Gly1977Ser ABCA4 p.Leu11Pro ABCA4 p.Glu1252* ABCA4 p.Gly1508Cys ABCA4 p.Gln636His ABCA4 p.Leu1971Arg Furthermore, all ABCR missense mutations Table 1 Mutations in the ABCR gene in STGD and FFM families Conserved aa in: Nucleotide change Amino acid change Domain ABCs RmP Phenotype Families Comment (571-2)A®G splicing mutation STGD 1 HAD1 (1938-2)A®G splicing mutation STGD 1 (4668+2)T®C splicing mutation STGD 1 (4735+2)T®A splicing mutation STGD 1 del(5196+1-5196+6 splicing mutation STGD 1 LOZ2 2570 delT frameshift mutation STGD 1 3209insGT frameshift mutation STGD 2 CHE2 G3754T E1252X STGD 1 C3994T Q1332X STGD 1 C6337G I2113X STGD 1 JEG2 C52T R18W IC - + STGD 1 C634T R212C EC - + STGD 5 GEN2, JEG2 G1908T Q636H IC - + STGD 1 LOZ2 C3056T T1019M IC - + STGD 1 C3322T R1107C IC - + STGD 1 JUL2 C4916T R1640W IC + + STGD 2 MAR1 G5929A G1977S ATP2 + + STGD 1 GEN2 G6320A R2107H IC + + STGD 1 JUL2 C3114T A1038V IC - + STGD 2 CHE2 +FFM +1 VII2 T1622C L541P EC - + FFM 1 VII2 T31C L11P IC + + FFM 1 G3272A G1090E IC + + FFM 1 G4522T G1508C IC + + FFM 1 C5908T L1970F IC + + FFM 1 GON2 T5912G L1971R IC + + FFM 1 GON2 Mutations refer to the standard nomenclature. Login to comment