Table 3 List of all other human mutations cases already described in the literature and the mutation case detected in Chinese patient in AK1 gene
No | Sex | Age (years) | Type of mutation | Nucleotide change | Amino acid change | Exons | Origin | References |
|---|---|---|---|---|---|---|---|---|
1 (1989) | NA | NA | Missense | 382C > T | Arg128Trp | Exon 6 | Japan | Matsuura et al. [14] |
2 (1999) | M | 7 | Nonsense | 319C > T | Arg107Stop | Exon 5 | Italy | Bianchi et al. [15] |
3 (1997) | F | 9 | Missense | 491A > G | Tyr164Cys | Exon 6 | Italy | Qualtieri et al. [16] |
4 (2003) | M | 11 (m) | Missense | 118G > A | Gly40Arg | Exon 4 | Spain | Corrons et al. [17] |
4 (2003) | M | 11 (m) | Missense | 190G > A | Gly64Arg | Exon 4 | Spain | Corrons et al. [17] |
5 (2003) | M | 2 | Deletion | 418_420delGAC | DeletionD140 | Exon 6 | English | Corrons et al. [17] |
6 (2004) | F | 3 | Frameshift | 138delG | Glu46del | Exon 4 | Italy | Fermo et al. [9] |
7 (2017) | F | 6 | Missense | 289C > T | Arg97Trp | Exon 5 | Japan | Niizuma et al. [18] |
8 (2019) | M | 6 | Missense | 71A > G | Premature stop | Exon 4 | India | Dongerdiye et al. [13] |
8 (2019) | M | 6 | Missense | 413G > A | Arg138His | Exon 6 | India | Dongerdiye et al. [13] |
9 (2021) | M | 5 | Substitution | 301C > A | Gln101Lys | Exon 5 | India | Dongerdiye et al. [19] |
10 (2021) | M | 3 | Missense | 413G > A | Arg138His | Exon 6 | China | This paper |
10 (2021) | M | 3 | Frameshift | 223dupA | Met75Asnfs*19 | Exon 5 | China | This paper |