Table 2 Database investigation and in silico prediction of mutations in 45 HLH patients
Case | Candidate gene | Nucleotide change | Amino acid change | ExAC allele frequency | HGMD/GS references | Polyphen-2 | SIFT | CD107a |
|---|---|---|---|---|---|---|---|---|
P2 | PRF1 | c.757G>A c.1061A>T | p.Glu253Lys p.Asp354Val | 0.00003296 Not reported | [33] No reference | PROBABLY DAMAGING with a score of 0.962 POSSIBLY DAMAGING with a score of 0.952 | AFFECT PROTEIN FUNCTION with a score of 0.01 AFFECT PROTEIN FUNCTION with a score of 0.02 | 32.28 |
P16 | SH2D1A | c.191G>A | p.Trp64Ter | Not reported | Not Available | Not Available | 33.83 | |
P17 | SH2D1A | c.162C>G | p.Tyr54 Ter | Not reported | [36] | Not Available | Not Available | 0.72 |
P26 | SH2D1A | c.163C>T | p.Arg55 Ter | Not reported | Not Available | Not Available | No done | |
P1 | PRF1 | c.385T>A | p.Trp129Arg | Not reported | No reference | PROBABLY DAMAGING with a score of 1.000 | AFFECT PROTEIN FUNCTION with a score of 0.00 | 3.24 |
P3 | UNC13D | c.478G>A | p.Val160 Met | Not reported | No reference | PROBABLY DAMAGING with a score of 0.999 | AFFECT PROTEIN FUNCTION with a score of 0.05 | 35.14 |
P4 | UNC13D | c.518C>T | p.Thr173Met | 0.00001670 | No reference | PROBABLY DAMAGING with a score of 1.000 | AFFECT PROTEIN FUNCTION with a score of 0.01 | 0.43 |
P5 | UNC13D | c.760C>T | p.Arg254Cys | 0.0003450 | No reference | PROBABLY DAMAGING with a score of 0.987 | AFFECT PROTEIN FUNCTION with a score of 0.02 | 5.69 |
P6 | UNC13D | c.2296C>T | p.Glu766 Ter | Not reported | Not Available | Not Available | 0.51 | |
P7 | UNC13D | c.3259C>T | p.Arg1087Trp | 0.0001438 | No reference | BENIGN with a score of 0.002 | AFFECT PROTEIN FUNCTION with a score of 0.00 | 2.64 |
XIAP | c.1268A>C | p.Gln423Pro | 0.3334 | BENIGN with a score of 0.002 | TOLERATED with a score of 0.30 | |||
P8 | STXBP2 | c.497C>T | p.Thr166Met | 0.0002454 | No reference | BENIGN with a score of 0.022 | TOLERATED with a score of 0.10 | 3.51 |
P9 | STXBP2 | c.497C>T | p.Thr166 Met | 0.0002454 | No reference | BENIGN with a score of 0.022 | TOLERATED with a score of 0.10 | 13.37 |
P10 | STXBP2 | c.575G>A | p.Arg192His | Not reported | [15] | PROBABLY DAMAGING with a score of 1.000 | AFFECT PROTEIN FUNCTION with a score of 0.00 | 13.73 |
P11 | STXBP2 | c.767T>C | p.Leu256Pro | Not reported | No reference | PROBABLY DAMAGING with a score of 1.000 | AFFECT PROTEIN FUNCTION with a score of 0.00 | 4.7 |
P38 | XIAP | c.1268A>C | p.Gln423Pro | 0.3334 | BENIGN with a score of 0.002 | TOLERATED with a score of 0.30 | 0.07 | |
P45 | UNC13D | c.118-307G>A | Unknown | Not reported | Not Available | Not Available | 3.07 |