Table 1 Mutations update in AK1 gene
S. no. | Type of mutation | Nucleotide change | Amino acid change | Origin | References |
|---|---|---|---|---|---|
1. | Missense | c.71A > G | p. Gln24Arg | Indian | Dongerdiye et al. [9] |
2. | Missense | c.118G > A | p. Gly40Arg | Spanish | Corrons et al. [1] |
3. | Frameshift | c.138delG | p.Glu46del | Italian | Fermo et al. [4] |
4. | Missense | c.190G > A | p. Gly64Arg | Spanish | Corrons et al. [1] |
5. | Missense | c.289C > T | p. Arg97Trp* | Japanese | Niizuma et al. [8] |
6. | Missense | c.301C > A | p. Gln101Lys | Indian | This paper |
7. | Nonsense | c.319C > T | p.Arg107Stop* | Italian | Bianchi et al. [3] |
8. | Missense | c.382C > T | p.Arg128Trp | Japan | Matsuura et al. [6] |
9. | Missense | c.413G > A | p.Arg138His | Indian | Dongerdiye et al. [9] |
10. | Deletion | c.418_420delGAC | p.Asp140del | English | Corrons et al. [1] |
11. | Missense | c.491A > G | p.Tyr164Cys | Italian | Qualtieri et al. [7] |