Basic Study
Copyright ©The Author(s) 2024.
World J Diabetes. Feb 15, 2024; 15(2): 275-286
Published online Feb 15, 2024. doi: 10.4239/wjd.v15.i2.275
Table 1 Clinical features of patients with adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 mutation
APPL1 variant
Age of onset in yr
BMI in kg/m2
HbA1C 4%-6%
FBG 4.4-6.1 mmol/L
1c.1894G>T (p. Asp632Tyr)Female1314.98118.25
2c.1898G>A (p. Arg633His)Male2136.636.98.3
3c.1595G>A (p. Arg532Gln)Male1320.6214.211.69
4c.1926A>G (p. Ile642Met)Male1220.528.38.46
5c.1153-16A>T (p.?)Male3925.916.17.66