Table 1.
Clinical features and CARD14 variants in patients with sporadic PRP1
| Variant2 | Age (Y)/Sex | Age at onset/diagnosis (Y) | Duration (Y) | Type3 | SNP rs | Variant | Minor allele frequency (%) | Functional consequences on the protein (Bioinformatics prediction programs)
|
||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Polyphen-2 | SIFT | PMut | SNAP | PROVEAN | ||||||||
| 1a | 72/F | 47/57 | 20 | 2 | rs114688446 | c.599G>A, p.S200N | A: 0.8 | Benign | Tolerated | Neutral | Neutral | Neutral |
| b | 56/M | 51/51 | 2 | 1 | ||||||||
| c | 62/M | 57/57 | 3 | 1 | ||||||||
| 2 | 75/M | 70/70 | 2 | 1 | rs142246283 | c.683T>G, p.L228R | no data | Probably damaging | Tolerated | Pathological | Neutral | Neutral |
| 3 | 46/F | 21/21 | 2 | 1 | rs117918077 | c.2044C>T, p.R682W | T: 1.2 | Probably damaging | Damaging | Pathological | Non-neutral | Deleterious |
| 4 | 35/F | 32/32 | 1 | 1 | no data | c.2406C>A, p.S802R | no data | Benign | Damaging | Pathological | Neutral | Neutral |
1
A total of 15 genomic variants were identified in the CARD14 gene in 48 patients with sporadic PRP (Table S1). The above variants have minor allele frequency of less than 1.5%
2
Note that the Variant 1 was disclosed in three different families (a–c)
3
Type 1: Classic adult type; Type 2: Atypical presentation with prolonged manifestations