ABCMdb

PMID: 9295268

Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Science. 1997 Sep 19;277(5333):1805-7., [PubMed]

Sentences

No. Mutations Sentence Comment

84 ABCA4 p.Asp2177Asn One alteration, Asp2177 3 Asn2177 (D2177N) (23), was present in 7 of the 167 AMD patients and in only 1 of 220 controls, which is a significant difference by Fisher`s exact test (P 5 0.023). Login to comment 86 ABCA4 p.Gly1961Glu Six patients had a G1961E (23) alteration. Login to comment 87 ABCA4 p.Asp2177Asn One alteration, Asp2177 3 Asn2177 (D2177N) (23), was present in 7 of the 167 AMD patients and in only 1 of 220 controls, which is a significant difference by Fisher`s exact test (P ϭ 0.023). Login to comment 89 ABCA4 p.Gly1961Glu Six patients had a G1961E (23) alteration. Login to comment 96 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn ABCA4 p.Leu1970Phe ABCA4 p.Ile1562Thr ABCA4 p.Arg1898His ABCA4 p.Arg1129Leu ABCA4 p.Glu471Lys ABCA4 p.Thr1428Met ABCA4 p.Arg1517Ser ABCA4 p.Gly1578Arg ABCA4 p.Arg1129Cys Mutation AMD (n 5167) STGD (n 5 98) General population (n 5 220) E471K 2 (1.2%) NA 0 (0%) R1129L 1 (0.6%) 0 (0%)* 0 (0%) T1428M 1 (0.6%) 0 (0%) 0 (0%) R1517S 1 (0.6%) 0 (0%) 0 (0%) I1562T 2 (1.2%) 0 (0%) 0 (0%) G1578R 1 (0.6%) 0 (0%) 0 (0%) 519611G 3 A 1 (0.6%) 0 (0%) 0 (0%) R1898H 1 (0.6%) 4 (4%) 0 (0%) G1961E 6 (3.6%) 8 (8%) 0 (0%) L1970F 1 (0.6%) 0 (0%) 0 (0%) 6519D11bp 1 (0.6%)ߤ 1 (1%)ߤ 0 (0%) D2177N 7 (4.2%) 0 (0%) 1 (0.45%) 6568DC 1 (0.6%) 0 (0%) 0 (0%) Totals 26 (16%) 13 (13%) 1 (0.45%) *A substitution to a different amino acid (R1129C) was detected in one STGD1 patient. Login to comment 99 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn ABCA4 p.Leu1970Phe ABCA4 p.Ile1562Thr ABCA4 p.Arg1898His ABCA4 p.Arg1129Leu ABCA4 p.Glu471Lys ABCA4 p.Thr1428Met ABCA4 p.Arg1517Ser ABCA4 p.Gly1578Arg ABCA4 p.Arg1129Cys Mutation AMD (n ϭ167) STGD (n ϭ 98) General population (n ϭ 220) E471K 2 (1.2%) NA 0 (0%) R1129L 1 (0.6%) 0 (0%)* 0 (0%) T1428M 1 (0.6%) 0 (0%) 0 (0%) R1517S 1 (0.6%) 0 (0%) 0 (0%) I1562T 2 (1.2%) 0 (0%) 0 (0%) G1578R 1 (0.6%) 0 (0%) 0 (0%) 5196ϩ1G 3 A 1 (0.6%) 0 (0%) 0 (0%) R1898H 1 (0.6%) 4 (4%) 0 (0%) G1961E 6 (3.6%) 8 (8%) 0 (0%) L1970F 1 (0.6%) 0 (0%) 0 (0%) 6519⌬11bp 1 (0.6%)† 1 (1%)† 0 (0%) D2177N 7 (4.2%) 0 (0%) 1 (0.45%) 6568⌬C 1 (0.6%) 0 (0%) 0 (0%) Totals 26 (16%) 13 (13%) 1 (0.45%) *A substitution to a different amino acid (R1129C) was detected in one STGD1 patient. Login to comment 107 ABCA4 p.Gly863Ala ABCA4 p.Val643Gly ABCA4 p.Arg943Gln ABCA4 p.Ser2255Ile ABCA4 p.Asp846His Alteration AMD STGD1 General population V643G 1/167 (0.6%) 0/98 (0%) 1/80 (1.25%) D846H 0/167 (0%) 1/98 (1%) 1/50 (2%) G863A 1/167 (0.6%) 13/150 (8.7%) 2/220 (0.9%) R943Q 6/127 (4.7%) 4/47 (9.5%) 13/80 (16.25%) S2255I 24/167 (14.4%) 8/98 (8%) 6/58 (10.3%) SCIENCE z VOL. 277 z 19 SEPTEMBER 1997 z www.sciencemag.org which map primarily to the highly conserved ATP-binding regions of the ABCR protein, AMD alterations were found outside these domains (Fig. 1). Login to comment 110 ABCA4 p.Gly863Ala ABCA4 p.Val643Gly ABCA4 p.Arg943Gln ABCA4 p.Ser2255Ile ABCA4 p.Asp846His Alteration AMD STGD1 General population V643G 1/167 (0.6%) 0/98 (0%) 1/80 (1.25%) D846H 0/167 (0%) 1/98 (1%) 1/50 (2%) G863A 1/167 (0.6%) 13/150 (8.7%) 2/220 (0.9%) R943Q 6/127 (4.7%) 4/47 (9.5%) 13/80 (16.25%) S2255I 24/167 (14.4%) 8/98 (8%) 6/58 (10.3%) SCIENCE ⅐ VOL. Login to comment