ABCMdb

PMID: 25133751

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCA4 p.Gly1961Glu ABCA4 p.Arg2030* T,p.R2030*; c.5882G.A,p.G1961E), BBS2 (c.1895G.C,p.R632P), GUCY2D (c.2512C.T,p.R838C), PROM1 (c.1117C.T,p.R373C), RDH12 (c.601T.C,p.C201R; c.506G.A,p.R169Q), RPGRIP1 (c.3565C.T,p.R1189*) and SPATA7 (c.253C.T,p.R85*) and new mutations in ABCA4 (c.3328+1G.C), CRB1 (c.2832_2842+23del), RP2 (c.884-1G.T) and USH2A (c.12874A.G,p.N4292D). Login to comment 98 ABCA4 p.Arg2030* The variant list following analysis of this case suggested a previously-identified homozygous nonsense mutation in ABCA4 (c.6088C.T, p.R2030*) [19] consistent with a diagnosis of CRD as the primary candidate. Login to comment 151 ABCA4 p.Gly1961Glu doi:10.1371/journal.pone.0104281.t002 previously reported missense variant (c.5882G.A, p.G1961E) [30,31] as well as the heterozygous splicing variant (c.3328+1G. Login to comment 162 ABCA4 p.Gly1961Glu ABCA4 p.Arg2030* To summarise, the mutations consisted of previously reported mutations of clinical significance in ABCA4 (c.6088C.T, p.R2030* [19] and c.5882G.A, p.G1961E [30,31]), RDH12 (c.601T.C, p.C201R [21] and c.506G.A, p.R169Q [29]), PROM1 (c.1117C.T, p.R373C [22,23]), GUCY2D (c.2512C. Login to comment 185 ABCA4 p.Gly1961Glu NA NA NA NA Het 94473807 ABCA4 missense NM_000350.2:c.5882G.A p.Gly1961Glu 22 C65 Deleterious bad Het [30,31] MA19 RCD Rec. None confirmed MA20 RP Rec. None confirmed The ID and diagnosis of the cases studied as well as the chromosome and position of the mutation according to the human genome assembly hg19, gene, coding effect, cDNA and protein nomenclature, BLOSUM62, AGVGD class, SIFT prediction, MAPP prediction, zygosity and whether the mutation has been previously implicated into causing disease are shown. Login to comment