Table 2

The TNFRSF1A variants in the 158 patients

Variant (protein variant)LocationNumber of cases (%)Ethnicity
D12E (p.Asp41Glu)Exon 23 (2)Caucasian
H22Q (p.His51Gln)2 (1)Caucasian
H22R (p.His51Arg)3 (2)Caucasian
C29F (p.Cys58Phe)1 (0.5)Caucasian
C29Y (p.Cys58Tyr)1 (0.5)Asian
C30F (p.Cys59Phe)1 (0.5)Caucasian
C30R (p.Cys59Arg)4 (3)Caucasian
C30Y (p.Cys59Tyr)1 (0.5)Caucasian
C33G (p.Cys62Gly)1 (0.5)Arab
C33Y (p.Cys62Tyr)12 (8)Caucasian
c.193-14G>AIntron 21 (0.5)Caucasian
c.194-15C>T1 (0.5)Caucasian
T37I (p.Thr66Ile)Exon 32 (1)Arab
1 (0.5)Caucasian
Y38S (c.200A>C)1 (0.5)Caucasian
L39F (p.Leu68Phe)4 (3)Caucasian
D42DEL (p.Asp71del)1 (0.5)Caucasian
C43G (c214T>G)3 (2)Caucasian
C43R (p.Cys72Arg)1 (0.5)Caucasian
C43S (p.Cys72Ser)1 (0.5)Caucasian
C43Y (p.Cys72Tyr)5 (3)Arab, Sub-Saharan African×2, Caucasian×2
P46L (p.Pro75Leu)Caucasian
Caucasian×15, African×1
T50K (p.Thr79Lys)2 (1)Caucasian Caucasian×3, Arab×1
T50M (p.Thr79Met)16 (10)Caucasian
C52Y (p.Cys81Tyr)5 (3)Caucasian
C55Y (p.Cys84Tyr)4 (3)Caucasian
S59P (p.Ser88Pro)1 (0.5)Caucasian
F60L (p.Phe89Leu)2 (1)Caucasian
T61N (p.Thr90Asn)2 (1)
N65I (p.Asn94Ile)2 (1)Caucasian
H66L (p.His95Leu)1 (0.5)Caucasian
L67P (p.Leu96Pro)1 (0.5)
H69fs (p.His98_Cys99delinsArg)1 (0.5)
C73R (p.Cys102Arg)
C73W (p.Cys102Trp)1 (0.5)
2 (1)
C88Y (p.Cys117Tyr)Exon 41 (0.5)Caucasian
R92P (p.Arg121Pro)1 (0.5)Caucasian
R92Q (p.Arg121Gln)54 (34)Caucasian
V95M (p.Val124Met)2 (1)Caucasian
C96Y (p.Cys125Tyr)1 (0.5)Caucasian
Y103_R104DEL (p.Tyr132_Arg133del)1 (0.5)Caucasian
E109A (p.Glu138Ala)
C114W (p.Cys143Trp2 (1)Caucasian
N116S (p.Asn145Ser)1 (0.5)Caucasian
1 (0.5)Caucasian
c.472+6C>TIntron 42 (1)Caucasian
L167_G175del (c.586_612del127Exon 61 (0.5)Asian
Intronic substitution c626-32G>TIntron 61 (0.5)Caucasian