Table 2. Details of the PLA2G6 mutations identified during the present study.
| SI. # | Family # | Diagnosis of the family | Mutation | Polyphen-2 score | Mutation Taster score | C score | Zygosity in the affected individual | Novel/known | ExAC database | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1 | INAD | c.2221C>T (p.Arg741Trp) | Probably damaging with a score of 1 | Disease causing with a p value of 0.88 | 21.9 | Homozygous | Known | Homozygous individual not known (1/17,550 alleles; only heterozygous individual known) | 1,4,9,30 |
| 2 | 2 | INAD | c.671T>C (p.Leu224Pro) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 31 | Heterozygous | Novel | Not present | Present study |
| 3 | 3 | INAD | c.1039G>A (p.Gly347Arg) | Probably damaging with a score of 1 | Disease causing with a p values of 0.99 | 29.4 | Homozygous | Known | Not present | 1,4 |
| 4 | 4 | ANAD | ND | |||||||
| 5 | 5 | INAD | c.208C>T (p.Arg70*) | Probably damaging with a score of 1 | Disease causing with a p value of 1 | 35 | Homozygous | Known | Not present | 11 |
| 6 | 7 | INAD | c.985C>T (p.Arg329Cys) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 36 | Homozygous | Novel | Not present | Present study |
| 7 | 8 | ANAD | c.238G>A (p.Ala80Thr) | Possibly damaging with a score of 0.85 | Disease causing with a p value of 1 | 25.3 | Homozygous | Known | Homozygous individual not known (1/105,640 alleles; only heterozygous individual known) | 1,4,11,24 |
| 8 | 9 | INAD | ND | |||||||
| 9 | 10 | INAD | c.671T>C (p.Leu224Pro) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 31 | Homozygous | Novel | Not present | Present study |
| 10 | 11 | INAD | ND | |||||||
| 11 | 12 | ANAD | ND | |||||||
| 12 | 13 | INAD | c.2030G>T (p.Arg677Leu) | Possibly damaging with a score of 0.83 | Disease causing with a p value of 0.86 | 22.4 | Heterozygous | Known | Homozygous individual not known (13/109,150 alleles; only heterozygous individual known) | Present study |
| 13 | 14 | ANAD | ND | |||||||
| 14 | 15 | INAD | c.847G>A (p.Asp283Asn) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 9.93 | Homozygous | Novel | Not present | Present study |
| 15 | 16 | INAD | ND | |||||||
| 16 | 18 | ANAD | ND | |||||||
| 17 | 20 | INAD | c.1471C>T (p.Leu491Phe) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 26.8 | Homozygous | Novel | Not present | Present study |
| 18 | 20 | INAD | c.1547C>T (p.Ala516Val) | Possibly damaging with a score of 0.77 | Possibly damaging with a score of 0.77 | 26.8 | Homozygous | Known | Homozygous individual not known (1/20,836 alleles; only heterozygous individual known) | Present study |
| 19 | 21 | ANAD | ND | |||||||
| 20 | 22 | DPC | ND | |||||||
| 21 | 23 | INAD | c.1613G>A (p.Arg538His) | Possibly damaging with a score of 0.89 | Disease causing with a p value of 0.99 | 27.1 | Homozygous | Known | Homozygous individual not known (1/120,738 alleles; only heterozygous individual known) | Present study |
| 22 | 24 | ANAD | c.1912G>A (p.Gly638Arg) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 22.9 | Compound heterozygous | Known | Not present | 1,4 |
| 23 | 24 | ANAD | c.1946G>A (p.Arg649His) | Probably damaging with a score of 1 | Disease causing with a p value of 0.99 | 23.1 | Novel | Not present | Present study | |
| 24 | 25 | ANAD | ND |
ND, mutation not detected in PLA2G6.