Table 2.
Genotypical characterisation of TRAPS patients. List of abbreviations: TNFRSF1A: tumor necrosis factor receptor super family member 1 A; HGVS: Human Genome Variation Society.
| TNFRSF1A mutation(s) | Frequency | |||
|---|---|---|---|---|
| HGVS sequence name | HGVS protein name | Usual name | ||
| Low penetrance | c.123T>G | p.(Asp41Glu) | D12E | 3 |
| c.143A>T | p.(Lys48Ile) | — | 1 | |
| c.224C>T | p.(Pro75Leu) | P46L | 5 | |
| c.362G>A | p.(Arg121Gln) | R92Q | 32 | |
| c.370G>A | p.(Val124Met) | V95M | 1 | |
| c.398G>A | p.(Arg133Gln) | R104Q | 2 | |
|
| ||||
| Unknown penetrance | c.1181G>A | p.(Arg394His) | — | 1 |
| Others | 3 | |||
|
| ||||
| High penetrance | c.214T>C | p.(Cys72Arg) | C43R | 2 |
| c.215G>A | p.(Cys72Tyr) | C43Y | 1 | |
| c.236C>T | p.(Thr79Met) | T50M | 10 | |
| c.242G>A | p.(Cys81Tyr) | C52Y | 3 | |
| c.244A>G | p.(Arg82Gly) | R53G | 2 | |
| c.251G>A | p.(Cys84Tyr) | C55Y | 1 | |
| c.262T>C | p.(Ser88Pro) | S59P | 2 | |
| c.305G>A | p.(Cys102Tyr) | C73Y | 2 | |
| c.349T>G | p.(Cys117Gly) | C88G | 1 | |
| c.373T>C | p.(Cys125Arg) | C96R | 3 | |
| c.380G>T | p.(Cys127Phe) | — | 1 | |
| c.394_399del | p.(Tyr132_Arg133del) | Y103_R104DEL | 1 | |
| c.472+1G>A | p.(Cys158delinsYERSSPEAKPSPHPRG) | c.472+1G>A | 2 | |
| c.586_612del27 | p.(Leu196_Gly204del) | L167_G175del | 1 | |