Table 2.
Four identified NPR2 variants
| Variant | Protein | Exon # | Location in receptor protein | SNP # | Polyphen‐2 score | Mutation taster | Mutation assessor | SNPs and GO | ACMG/AMP: InterVar‐adjusted |
|---|---|---|---|---|---|---|---|---|---|
| c.2359C>T | R787W | Exon 15 | Kinase homology domain | rs114147262 | 0.998 |
Heterozygous in TGP or ExAC Minor allele frequency 0.16% |
Medium (score, 3.14) | Disease | US |
| c.2762G>A | R921Q | Exon 19 | Guanylyl cyclase domain | rs770276670 | 0.997 | Protein features (might be) affected | Medium (score, 2.30) | Disease | P |
| c.1483C>T | R495C | Exon 8 | Transmembrane domain | novel | 0.999 | Protein features (might be) affected | Medium (score, 2.57) | Disease | P |
| c.1792T>A | Y598N | Exon 11 | Kinase homology domain | novel | 1.000 | Protein features (might be) affected | High (score, 4.31) | Disease | P |
Abbreviations: ACMG/AMP, American College of Medical Genetics/Association for Molecular Pathology; ExAC, exome aggregation consortium; P, pathogenic; SNP, single‐nucleotide polymorphism; TGP, 1000 genome project; US, uncertain significance.