Table 2 of
Gamundi, Mol Vis 2007;
13:1031-1037.Table 2 of
Gamundi, Mol Vis 2007;
13:1031-1037.
Table 2. Mutations in the peripherin/RDS gene found in nish patients with autosomal dominant macular dystrophy
The following abbreviations were used: adult vitelliform macular dystrophy (AVMD); butterfly-shaped pattern dystrophy (BPD), central areolar choroidal dystrophy (CACD), and pattern macular dystrophy (PMD). Position-specific independent counts (PSIC) score calculates the difference between first and second amino acid variant.
cDNA change
Exon (NM_000322) Protein change PSIC score difference Phenotype Reference
-------- --------------- ---------------- --------------------- --------- -------------
1B 658 TAC>CAC Tyr141His 2.148 AVDM [27]
1B 661 CGG>TGG Arg142 Trp 2.118 CACD [27,28]
1B 678 del T Gly148AlafsX152 - CACD [29]
1B 751 CGG>TGG Arg172Trp 2.606 CACD [4,21-25]
2 821 CGA>CTA Arg195Leu 2.745 PMD [30]
2 846_862 del Tyr204Pro fsX211 - PMD [29]
2 860 GGC>GAC Gly208Asp 1.843 PMD [29,31]
2 875 TGC>TTT Cys213Phe 3.665 AVMD Present study
2 878 TGC>TAC Cys214Tyr 3.665 PMD [27]
2 895 CGG>TGG Arg220Trp 2.970 BPD [21]
2 948_959 del Asp237_Thr240del - BPD Present study
2 975-978 dupGGTG Arg248Gly fsX301 - PMD Present study
Intron 2 IVS2+2 T>C ---- - PMD Present study
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