Mutation type and phenotype in PKHD1
| Phenotype | Mutation type: numbers of alleles and proportions | ||||||
|---|---|---|---|---|---|---|---|
| Chain terminating groups | Putative splice site variants | Amino acid substitutions | Total | ||||
| Type 1 | 32 (0.44) | 11 (0.15) | 29 (0.40)*,** | 72 | |||
| Type 2 | 6 (0.15) | 2 (0.05) | 30 (0.80) | 40 | |||
| Mutational genotype: numbers of individuals and proportions | |||||||
|---|---|---|---|---|---|---|---|
| Splice/splice | Truncation/truncation | Truncation/splice | Truncation/missense | Splice/missense | Missense/missense | Totals | |
| *p = 0.00003, significant difference between the two phenotypes among the mutation types; **p = 0.003, amino acid substitution is significantly associated with perinatal survival. | |||||||
| Type 1 | 1 (0.027) | 7 (0.19) | 5 (0.14) | 13 (0.36) | 4 (0.11) | 6 (0.17) | 36 |
| Type 2 | 0 (0) | 0 (0) | 0 (0) | 6 (0.3) | 2 (0.10) | 12 (0.60) | 20 |
| Total | 1 | 7 | 5 | 19 | 6 | 18 | 56 |