Table 2 ALPL gene mutations in 4 HPP Chinese patients
Patient | Genotype | Exon | Nucleotide change | Amino acid change | Mutation type | Reported previously |
|---|---|---|---|---|---|---|
PA-1 | homozygous | 5 | c.359G>C | p.G120A | Missense | Novel |
PA-2 | Compound heterozygous | 4 | c.212G>A | p.R71H | Missense | Reported |
6 | c.571G>A | p.E191K | Missense | Reported | ||
PA-3 | Compound heterozygous | 4 | c.203C>T | p.T68M | Missense | Reported |
6 | c.571G>A | p.E191K | Missense | Reported | ||
PA-4 | Compound heterozygous | 9 | c.979T>C | p.F327L | Missense | Reported |
10 | c.1017dupG | p.H340AfsX3 | Frameshift | Novel |