From: IFNAR1 gene mutation may contribute to developmental stuttering in the Chinese population
Nucleotide mutation | Amino acid mutation | SNP ID | Family | Individuals | Function | |
---|---|---|---|---|---|---|
Case (N=66) | Control (N=50) | Case (N=86) | ||||
1282A>C | Lys428Gln | rs563741878 | [F5] 4 [F9] 2 | [F5] 0 [F9] 0 | 0 | Benign (PolyPhen) |
1655T>C | Leu552Pro | rs762410025 | [F0] 3 | [F0] 0 | 0 | Delerious (SIFT) |
902G>A | Gly301Glu | rs375386475 | 0 | 0 | 1 | probably damaging (PolyPhen) |
1002_1004 delTCC | Pro335del | rs72552343 | 0 | 0 | 3 | Delirious (PROVEAN) |