ABCMdb

ABCA4 p.Phe642Ile

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Publications

PMID: 24791140 [PubMed] Jin X et al: "Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology."

No. Sentence Comment

81 After filtering against these databases, four variants that might be associated with RDs diseases were left: The first was a heterozygous nucleotide deletion variation c.942_944delGAA in IMPDH1, which was predicted to result in lysine deletion at position 314 (p.Lys314del p.K314del) in the proband of Family-012; the second was a homozygous single-nucleotide-polymorphic site c.1924T>A in ABCA4 leading to amino acid substitution of phenylalanine for isoleucine at position 642 (p.Phe642Ile p.F642I) in the proband of Family-024; the third and fourth were compound heterozygous mutations of c.272A>G and c.196C>T in NMNAT1 that caused glutamic acid substitution for glycine at position 91 (p.Glu91Gly p.E91G) and amino acid substitution of arginine for tryptophan at position 66 (p.Arg66Trp p.R66W) in the proband of Family-035. Login to comment
120 Thus, in total, we have identified four mutants in three Chinese families associated with adRP, STGD, and LCA, including a deletion mutation encoding p.K314del in IMPDH1 and three missense mutations encoding p.F642I in ABCA4, p.E91G, and p.R66W in NMNAT1 with gene panel-based NGS. Login to comment
125 Sample Disease Inheritance mannera Gene Exon Nucleotide change Amino acid change Mutation typeb SIFT/ Polyphen2c Family-012 RP AD IMPDH1 10 c.942_944delGAA p.K314del het N.P. Family-024 STD AR ABCA4 13 c.1924T>A p.Phe642Ile hom 0.03/ 0.278 Family-035 LCA AR NMNAT1 3 c.272A>G p.Glu91Gly het 0.2/0.745 NMNAT1 3 c.196C>T p.Arg66Trp het N.P a Inheritance manner: AR (autosomal recessive), AD (autosomal dominant);b Mutation type: het (heterozygous), hom (homozygous); c SIFT/ Polyphen2: N.P. (not predicted) APPENDIX 1. Login to comment

PMID: 26103963 [PubMed] Boulanger-Scemama E et al: "Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation."

No. Sentence Comment

99 Table 1 Summary of 43 patients carrying pathogenic and likely pathogenic mutations in known CCRD genes ID Type Consang. Gene NM Allele State Exon cDNA Protein Coseg. Conservation Polyphen2 Sift Mutation taster References High confidence CIC00137 simplex ABCA4 NM_000350.2 Ho 47 c.6394G>A p.(E2132K) + Highly Prd D Dc Novel CIC00765 Ar + ABCA4 NM_000350.2 Ho 47 c.6445C>T p.(R2149*) + - - - - (Lewis et al. 1999) (rs61750654) CIC03436 Ar + ABCA4 NM_000350.2 Ho 42 c.5892del p.(G1965Efs*9) Np - - - - a CIC04412 simplex ABC4A NM_000350.2 Het 34 c.4793C>A p.(A1598D) + Weakly Pd T Dc (Maugeri et al. 2000) (rs61750155) ABCA4 NM_000350.2 Het 28 c.4234C>T p.(Q1412*) + - - - - (Maugeri et al. 2000) (rs61750137) CIC04645 Ar + ABCA4 NM_000350.2 Ho 13 c.1924T>C p.(F642L) Np Moderately B D Dc Novel, but c.1924T>A p.F642I in (Jin et al. 2014) [80] CIC05087 simplex ABCA4 NM_000350.2 Ho IVS 11 c.1554+1G>C r.(spl?) Login to comment