ABCC8 p.Phe217Leu
| Predicted by SNAP2: | A: D (66%), C: N (72%), D: D (80%), E: D (80%), G: D (75%), H: D (63%), I: N (57%), K: D (80%), L: N (53%), M: D (63%), N: D (63%), P: D (71%), Q: D (66%), R: D (75%), S: D (59%), T: D (63%), V: N (53%), W: D (53%), Y: N (87%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: N, |
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[hide] Retinal dehydrogenase 12 (RDH12) mutations in lebe... Am J Hum Genet. 2004 Oct;75(4):639-46. Epub 2004 Aug 20. Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, Rozet JM
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Am J Hum Genet. 2004 Oct;75(4):639-46. Epub 2004 Aug 20., [PMID:15322982]
Abstract [show]
Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are involved in the visual cycle, we regarded the retinal pigment epithelium and photoreceptor-specific retinal dehydrogenase (RDH) genes as candidate genes in LCA. Studying a series of 110 unrelated patients with LCA, we found mutations in the photoreceptor-specific RDH12 gene in a significant subset of patients (4.1%). Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia.
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No. Sentence Comment
71 3 Silent Polymorphisms and Benign Variants Identified in LRAT, RDH8,RDH10, RDH11, RDH13, and RDH14 Gene and Family Number Exon Base Change Predicted Amino Acid Change Frequency (%) LRAT: 1 2 c.525TrG p.Ser175Pro 3 RDH8: 1 2 c.237TrC p.Cys79Cys 1 2 3 c.408CrG p.His136Gln 35 RDH10: 1 1 c.1-33GrA None 1 RDH11: 1 5 c.628ArG p.Ile210Val 1 RDH13: 1 4 c.63CrT p.Asn21Asn 1 2a 4 c.63CrA p.Asn21Lys 2a 4 c.64GrA p.Ala22Asn 11 2a Intron 5 c.127ϩ42CrT 3 6 c.427CrT p.Leu143Leu 2 4 8 c.651CrG p.Phe217Leu 3 5 8 c.771CrA p.Pro257Pro 2 RDH14: 1 2 c.855TrC p.Thr285Thr 8 2 2 c.838GrA p.Val280Ile 1 a Three nucleotide changes were found on the same RDH13 allele; the frequency value (11%) is for all three combined.
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ABCC8 p.Phe217Leu 15322982:71:491
status: NEW