Table 2 Results form variant filtering aimed at identifying homozygous variants that segregated with MCD in the family with an autosomal recessive inheritance pattern. Only CHST6 was previously associated with MCD
From: Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family
Gene | Chromosome positiona | Nucleotide change | dbSNPb | Mutation type | SIFTc | PolyPhen-2c | MutationTaster2 |
|---|---|---|---|---|---|---|---|
CSMD1 | 8:3351246 | G/C | rs368653091 | Splice site | -- | -- | Disease causing (1.00) |
RP1L1 | 8:10469917 | G/C | rs77585543 | Missense | Deleterious (0.00) | Probably damaging (0.99) | Polymorphism (0.99) |
GATA4 | 8:11606430 | A/G | -- | Missense | Tolerated (0.20) | Benign (0.03) | Polymorphism (0.67) |
CHST6 | 16:75513516 | C/G | -- | Missense | Deleterious (0.00) | Probably damaging (1.00) | Disease causing (1.00) |
USP10 | 16:84779043 | G/A | rs115881577 | Missense | Tolerated (0.38) | Benign (0.01) | Polymorphism (0.99) |
CRISPLD2 | 16:84900601 | A/G | rs114234975 | Missense | Tolerated (0.37) | Benign (0.00) | Polymorphism (0.99) |
ANKRD24 | 19:4216761 | C/T | rs377188730 | Missense | Tolerated (0.06) | Benign (0.05) | Polymorphism (0.99) |