Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients

Table 1 Clinical features of patients with adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 mutation

Patient	APPL1 variant	Sex	Age of onset in yr	BMI in kg/m2	HbA1C 4%-6%	FBG 4.4-6.1 mmol/L
1	c.1894G>T (p. Asp632Tyr)	Female	13	14.98	11	8.25
2	c.1898G>A (p. Arg633His)	Male	21	36.63	6.9	8.3
3	c.1595G>A (p. Arg532Gln)	Male	13	20.62	14.2	11.69
4	c.1926A>G (p. Ile642Met)	Male	12	20.52	8.3	8.46
5	c.1153-16A>T (p.?)	Male	39	25.91	6.1	7.66

APPL1: Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1; BMI: Body mass index; FBG: Fasting blood glucose; HbA1C: Hemoglobin A1c.

Table 2 Pathogenicity analysis of adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 gene mutations

Patient	APPL1 variant	MutationTaster pathogenicity and probability value	PolyPhen-2 pathogenicity and score	Revel pathogenicity and score
1	c.1894G>T (p. Asp632Tyr)	Disease causing (0.995)	Benign (0.285)	Benign (0.120)
2	c.1898G>A (p. Arg633His)	Disease causing (0.999)	Benign (0.052)	Benign (0.140)
3	c.1595G>A (p. Arg532Gln)	Disease causing (1.000)	Probably damaging (1.000)	Probably damaging (0.477)
4	c.1926A>G (p. Ile642Met)	Polymorphism (0.998)	Benign (0.007)	Benign (0.038)
5	c.1153-16A>T (p.?)	Polymorphism (1)	-	-

APPL1: Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1.