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
X
ABCA4 p.Arg212Cys 9781034:34:220
status: NEW
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ABCA4 p.Arg212Cys
X
ABCA4 p.Arg212Cys 9781034:34:222
status: NEW
view ABCA4 p.Arg212Cys details
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
X
ABCA4 p.Ala1038Val 9781034:43:139
status: NEW
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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
X
ABCA4 p.Ala1038Val 9781034:44:19
status: NEW
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ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 9781034:44:190
status: NEW
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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
X
ABCA4 p.Ala1038Val 9781034:45:826
status: NEW
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ABCA4 p.Arg212Cys
X
ABCA4 p.Arg212Cys 9781034:45:594
status: NEW
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ABCA4 p.Leu541Pro
X
ABCA4 p.Leu541Pro 9781034:45:872
status: NEW
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ABCA4 p.Thr1019Met
X
ABCA4 p.Thr1019Met 9781034:45:664
status: NEW
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ABCA4 p.Gln1332*
X
ABCA4 p.Gln1332* 9781034:45:524
status: NEW
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ABCA4 p.Arg18Trp
X
ABCA4 p.Arg18Trp 9781034:45:569
status: NEW
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ABCA4 p.Arg2107His
X
ABCA4 p.Arg2107His 9781034:45:793
status: NEW
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ABCA4 p.Leu1970Phe
X
ABCA4 p.Leu1970Phe 9781034:45:980
status: NEW
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ABCA4 p.Arg1640Trp
X
ABCA4 p.Arg1640Trp 9781034:45:725
status: NEW
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ABCA4 p.Ile2113*
X
ABCA4 p.Ile2113* 9781034:45:545
status: NEW
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ABCA4 p.Gly1977Ser
X
ABCA4 p.Gly1977Ser 9781034:45:758
status: NEW
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ABCA4 p.Leu11Pro
X
ABCA4 p.Leu11Pro 9781034:45:901
status: NEW
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ABCA4 p.Glu1252*
X
ABCA4 p.Glu1252* 9781034:45:503
status: NEW
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ABCA4 p.Gly1508Cys
X
ABCA4 p.Gly1508Cys 9781034:45:953
status: NEW
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ABCA4 p.Gln636His
X
ABCA4 p.Gln636His 9781034:45:632
status: NEW
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ABCA4 p.Leu1971Arg
X
ABCA4 p.Leu1971Arg 9781034:45:1012
status: NEW
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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