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©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
Published online Feb 15, 2024. doi: 10.4239/wjd.v15.i2.275
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) | - | - |
- Citation: Shi P, Tian Y, Xu F, Liu LN, Wu WH, Shi YZ, Dai AQ, Fang HY, Li KX, Xu C. Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients. World J Diabetes 2024; 15(2): 275-286
- URL: https://www.wjgnet.com/1948-9358/full/v15/i2/275.htm
- DOI: https://dx.doi.org/10.4239/wjd.v15.i2.275