ABCMdb

PMID: 11846518

Birch DG, Peters AY, Locke KL, Spencer R, Megarity CF, Travis GH
Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene.
Exp Eye Res. 2001 Dec;73(6):877-86., [PubMed]

Sentences

No. Mutations Sentence Comment

202 ABCA4 p.Ser206Arg ABCA4 p.Ser206Arg ERG ®ndings are shown in Fig. 2 from a 9 year old female (#5402) who is compound heterozygous for a splice-junction mutation in exon 3 and a mutation in exon 6 resulting in a S206R substitution. Login to comment 203 ABCA4 p.Ser206Arg The S206R substitution was present in the mother, while the splice-junction mutation was present in the father. Login to comment 207 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Asn965Ser ABCA4 p.Asn965Ser ABCA4 p.Cys2150Tyr ABCA4 p.Cys2150Tyr ABCA4 p.Thr901Ala ABCA4 p.Thr901Ala ABCA4 p.Ser1642Arg ABCA4 p.Ser1642Arg ABCA4 p.Ala192Thr ABCA4 p.Ala192Thr ABCA4 p.Ser1736Pro ABCA4 p.Ser1736Pro ABCA4 p.Ser206Arg ABCA4 p.Ser206Arg ABCA4 p.Arg1705Leu ABCA4 p.Arg1705Leu ABCA4 p.Leu1390Pro ABCA4 p.Leu1390Pro ABCA4 p.Arg408* ABCA4 p.Arg408* In contrast, the ®t of the T ABLE III ABCR mutations in patients with ARRP and CRD hRmP exon # Base variation site Codon variation site # WT with mutation New mutation WT genotype RP CRD 3195 3424 5402 5398 4317 146 3793 2566 4800 4512 5581 4770 3 3 H Jxn 1 3 H Jxn 0 in 53 Yes G/G G/A 3 G161A C054Y 0 in 53 No G/G A/A G/A 6 C618G S206R 0 in 53 No C/C C/G 6 G574A A192T 0 in 53 No G/G G/A 9 C1222T R408stop 0 in 53 No C/C C/T 18 A2701G T901A 0 in 53 No A/A A/G 19 A2894G N965S 0 in 53 No A/A A/G 28 T4169C L1390P 0 in 53 Yes T/T T/C 33 3 H Jxn 2 3 H Jxn 0 in 53 Yes T/T T/C 35 C4926G S1642R 0 in 53 Yes C/C C/G 36 G5115T R1705L 0 in 53 No G/G G/T 36 deletion deletion 0 in 53 Yes no del deln 37 T5206C S1736P 0 in 53 No T/T T/C 42 G5882A G1961E 0 in 53 No G/G A/G 47 G6449A C2150Y 0 in 53 No G/G G/A phototransduction model to the cone a-waves revealed a reduction in gain of approximately 0.5 log unit. Login to comment 209 ABCA4 p.Cys54Tyr ABCA4 p.Cys54Tyr ERG ®ndings in patient #3424 with a homozygous mutation in exon 3 resulting in a C54Y substitution are shown in Fig. 3. Login to comment 218 ABCA4 p.Ser206Arg Also shown is the approximate location of the S206R substitution and the splice junction mutation on the predicted topological map of RmP. Right: ISCEV standard responses and high intensity rod and cone a-waves. Dashed lines show the best ®t of the photoreceptor cone b-waves were signi®cantly delayed in implicit time. Login to comment 229 ABCA4 p.Cys54Tyr Also shown is the approximate location of the C54Y substitution on the predicted topological map of RmP. Right: ISCEV standard responses and high intensity rod and cone a-waves. Dashed lines show the best ®t of the photoreceptor model. Login to comment