Table 3. Mutations in the ALPL gene found in the six families and three patients.
| Number | Relationship | Amino acid change | Status | Location of mutated amino acids in 3D model | Function Predict (Polyphen2, SIFT, Mutation Assessor) | Reference |
|---|---|---|---|---|---|---|
| FM1 | ||||||
| FM1-1 | Proband | T141N | Compound heterozygous | Active site | Damaging | [8] |
| C497S* | Not shown | Damaging | The present study | |||
| FM1-2 | Proband’s brother | T141N | Compound heterozygous | Active site | Damaging | [8] |
| C497S* | Not shown | Damaging | The present study | |||
| FM1-3 | Proband’s mother | T141N | Heterozygous | Active site | Damaging | |
| FM1-4 | Proband’s father | C497S* | Heterozygous | Not shown | Damaging | The present study |
| FM2 | ||||||
| FM2-1 | Proband | Y388H | Heterozygous | Crown domain | Damaging | [12] |
| FM2-2 | Proband’s mother | Y388H | Heterozygous | Crown domain | Damaging | 12 |
| FM3 | ||||||
| FM3-1 | Proband | R138Pfs45x* | Frameshift | - | - | The present study |
| FM4 | ||||||
| FM4-1 | Proband | R136H | Compound heterozygous | Active site | Damaging | 30 |
| R136C | Active site | Damaging | Versailles lab, October 2003 | |||
| FM4-2 | Proband’s father | R136H | Heterozygous | Active site | Damaging | 30 |
| FM5 | ||||||
| FM5-1 | Proband | I10T | Compound heterozygous | Not shown | Benign | Versailles lab, June 2017 |
| 328delF | Homodimer interface | - | 25 | |||
| PA-6 | V459A* | Heterozygous | Homodimer interface | Damaging | The present study | |
| PA-7 | C201R* | Heterozygous | - | Damaging | The present study |
Accession number genomic sequence of the ALPL gene: Ref Seq NG_008940.1. Function predict by PolyPhen2 software, score ranges from 0 to 1.000, where 0 is benign, and a high positive number is damaging.
*, Novel mutations in ALPL.