Table 2.
Variants of LIPA gene based on online databases and pathogenic prediction tools
| Patient ID | Nucleotide alteration | Protein alteration | Domain location | Zygosity | Functional prediction tools | dbSNP ID | |||
|---|---|---|---|---|---|---|---|---|---|
| SIFT | Polyphen2 | Mutation Taster | Clinical significance ACMG | ||||||
|
P1-P2 P3-P4 |
c.260G > T | p.Gly87Val | Exon 4 | Homo | Deleterious (0) | Probably damaging (0.999) | Disease causing | Pathogenic (PP5, PP3, PM1, PM2) | rs587778878 |
| P5- P6 | c.1055_1057del | p. Asp352del | Exon 10 | Homo | NA | NA | Disease causing | Uncertain Significance (PM1, PM4, PM2) | rs767207643 |
| P7 | c1122T > G | p. His374Gln | Exon 10 | Homo | Deleterious (0) | Probably damaging (0.995) | Disease causing | Likely pathogenic (PP3, PM1, PM5, PM2) | This study |
P patient, Homo homozygous, NA not applicable, SIFT Sorting Intolerant From Tolerant, Polyphen2 Polymorphism Phenotyping v2, ACMG American College of Medical Genetics and Genomics