ABCMdb

PMID: 9666097

Allikmets R, Wasserman WW, Hutchinson A, Smallwood P, Nathans J, Rogan PK, Schneider TD, Dean M
Organization of the ABCR gene: analysis of promoter and splice junction sequences.
Gene. 1998 Jul 17;215(1):111-22., [PubMed]

Sentences

No. Mutations Sentence Comment

122 ABCA4 p.Gly863Ala ABCA4 p.Val2050Leu acceptors (G863A, 5585+1G/A, V2050L), and six in The mean of the distribution of individual information donors (4253+5G/T, 5196+1G/A, 5196+2T/C, contents (R i values, R sequence ) for splice acceptor and 5714+5G/A, 5898+1G/T, 6005+1G/T). Login to comment 126 ABCA4 p.Gly863Ala ABCA4 p.Val2050Leu acceptors (G863A, 5585+1G/A, V2050L), and six in The mean of the distribution of individual information donors (4253+5G/T, 5196+1G/A, 5196+2T/C, contents (R i values, R sequence ) for splice acceptor and 5714+5G/A, 5898+1G/T, 6005+1G/T). Login to comment 130 ABCA4 p.Val2050Leu The V2050L muta-For the 50 splice acceptor and donor sites of the tion lowered the information content of the spliceABCR gene, the average R i values were 9.49±0.37 and acceptor site in exon 45 insignificantly, suggesting that7.45±0.32, respectively, in good correlation with those this variant did not affect splicing but represented apredicted. Login to comment 132 ABCA4 p.Gly863Ala In general, splice sites contained well-known exon 17 splice acceptor site, G863A, had a dual effectconserved AG and GT sequences in acceptors and (Fig. 1b). Login to comment 135 ABCA4 p.Gly863Ala ABCA4 p.Val2050Leu ABCA4 p.Val2050Leu The individual information R i acceptor at position 365 by two bits and created an Table 2 Analysis of ABCR splice site variants Exon Mutation Disease Number of patients wt R i mt R i Predicted effect on the ABCR protein 17A G863A STGD/AMD 11/1 11.6 9.7 Change of aa or deletion of one aaa 28D 4253+5G/T STGD 1 8.2 4.3 Partially functioning splice site 36D 5196+1G/A AMD 1 6.8 -6.0 Non-functional protein 36D 5196+2T/C STGD 1 6.8 -0.7 Non-functional protein 40A 55851G/A STGD 1 5.9 -1.6 Non-functional protein 40D 5714+5G/A STGD 8 7.2 3.7 Partially functioning splice site 42D 5898+1G/T STGD 3 8.6 0.8 Non-functional protein 43D 6005+1G/T STGD 1 11.2 3.4 Partially functioning splice site 45A V2050L STGD 2 12.5 10.6 Change of aa, no effect on splicing 'A` or 'D` after the exon number indicates splice acceptor or donor sequences, respectively. Login to comment 138 ABCA4 p.Gly863Ala In general, splice sites contained well-known exon 17 splice acceptor site, G863A, had a dual effect conserved AG and GT sequences in acceptors and (Fig. 1b). Login to comment 141 ABCA4 p.Gly863Ala ABCA4 p.Val2050Leu The individual information R i acceptor at position 365 by two bits and created an Table 2 Analysis of ABCR splice site variants Exon Mutation Disease Number of patients wt R i mt R i Predicted effect on the ABCR protein 17A G863A STGD/AMD 11/1 11.6 9.7 Change of aa or deletion of one aaa 28D 4253+5G/T STGD 1 8.2 4.3 Partially functioning splice site 36D 5196+1G/A AMD 1 6.8 -6.0 Non-functional protein 36D 5196+2T/C STGD 1 6.8 -0.7 Non-functional protein 40A 55851G/A STGD 1 5.9 -1.6 Non-functional protein 40D 5714+5G/A STGD 8 7.2 3.7 Partially functioning splice site 42D 5898+1G/T STGD 3 8.6 0.8 Non-functional protein 43D 6005+1G/T STGD 1 11.2 3.4 Partially functioning splice site 45A V2050L STGD 2 12.5 10.6 Change of aa, no effect on splicing 'A` or 'D` after the exon number indicates splice acceptor or donor sequences, respectively. Login to comment 150 ABCA4 p.Gly863Ala A G C (G863A) mutation in the first nucleotide of exon 17. Login to comment 156 ABCA4 p.Gly863Ala A GQC (G863A) mutation in the first nucleotide of exon 17. Login to comment