ABCC8 p.Phe217Leu
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PMID: 15322982
[PubMed]
Perrault I et al: "Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis."
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Sentence
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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