ABCA4 p.Glu2132Lys
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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."
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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?)
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ABCA4 p.Glu2132Lys 26103963:99:291
status: NEW