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Table 1 Mutations update in AK1 gene

From: Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

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]
  1. *Mutations associated with psychomotor retardation