Table 2.
Variants in Hemophagocytic Lymphohistiocytosis (HLH) Genes
| Sample Source | Gene | Variant | Identifier | Variant Type | Prediction SIFT/Polyphen | 1000 Genomes MAF | ExAC MAF | Conservation (PhyloP) |
|---|---|---|---|---|---|---|---|---|
| Patients 7 and 11 | PRF1 | c.272C > T(p.A91V) | rs35947132 | Missense | Damaging/Probably damaging | 0.013 | 0.031 | 3.6 |
| Patient 4 | LYST | c.8913T > G(p.N2971K) | rs34702903 | Missense | Tolerated/Possibly damaging | 0.0006 | 0.002 | 0.77 |
| Patients 1, 11, and 14 | LYST | c.5945C > T(p.T1982I) | rs146591126 | Missense | Tolerated/Benign | 0.0016 | 0.006 | 3.03 |
| Patient 7 | LYST | c.11086G > A(p.V3696I) | rs147221131 | Missense | Tolerated/Benign | 0.0002 | 0.0008 | 2.87 |
Transcript accession numbers were as follows: PRF1 NM_001083116.1, LYST NM_000081.3.
Abbreviation: MAF, minor allele frequency.