Family ID | Exon | Variation | PolyPhen2 | SIFT | Mutation taster | DbSNP | References |
|---|
Nucleotide | Protein | Status | Type |
|---|
Family1 | 7 | c.1074G > A | p.W358X | Het | Nonsense | – | – | – | Novel | [8] |
Family1 | 7 | c.1706G > A | p.R569H | Het | Missense | PD (0.991) | D (0.00) | DC (0.999) | Novel | [7, 20] |
Family2 | 7 | c.968C > A | p.A323D | Hom | Missense | PD (0.960) | D (0.02) | DC (0.999) | Novel | This study |
-
Het heterozygous, Hom homozygous, D deleterious, PD probably damaging, DC disease-causing
