PMID: 15322982

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., [PubMed]
Sentences
No. Mutations Sentence Comment
71 ABCC8 p.Phe217Leu
X
ABCC8 p.Phe217Leu 15322982:71:491
status: NEW
view ABCC8 p.Phe217Leu details
 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. Login to comment