Table 2.
Effects of novel NLRP5 and PATL2 mutations predicted using in silico tools
| Position on chromosome | cDNA alteration | Amino acid alteration | Exon | Mutation | gnomAD allele frequency | gnomAD homozygote frequency | dbSNP (v153) | SIFT | Polyphen-2 | MutationTaster | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| F1:II-2 | NLRP5 Chr19: 56538881_56538884delTTAG | c.1286_1289del | p.V429Efs*30 | 7 | Frameshift | 14/280438 | 0/280438 | rs769276313 | - | - | 1 (D) |
| F2:II-1 | PATL2 Chr15:44961748delG | c.890delC | p.A297Efs*20 | 10 | Frameshift | Not found | Not found | - | - | - | 1 (D) |
a. Mutation assessment by SIFT, PolyPhen-2, and MutationTaster
D damaging; P probably damaging