Table 3. TNFRSF13B genetic mutations of... | Rockefeller University Press

Table 3.

TNFRSF13B genetic mutations of 161 PAD patients based on gnomAD MAF < 0.01

TACI variants	Total	Mono allelic	Biallelic	Type	Domain	CADD	gnomAD, MAF	Top MAF in different populations
p.Cys104Arg	65	43	22	Missense	EC	25.7	0.003400	0.005 in European non-Finnish
p.Ala181Glu	26	24	2	Missense	TM	16.01	0.005538	0.024 in European Finnish^{^b}
p.Leu69ThrfsX12	12	8	4	Frameshift	EC	22.8	0.0003949	0.005 in Ashkenazi Jewish
p.Arg72His	9	9	0	Missense	EC	0.5	0.002003	0.003 in European non-Finnish
p.Ile87Asn	7	6	1	Missense	EC	24	0.0004237	0.0007 in European non-Finnish
p.Cys172Tyr	5	5	0	Missense	TM	23.1	0.0001810	0.0004 in Ashkenazi Jewish
p.Arg122Trp	4	4	0	Missense	EC	18.64	0.0002321	0.0003 in European non-Finnish
p.Gln57His	4	4	0	Missense	EC	14.71	0.0002432	0.0007 in South Asian
p.Cys193Arg	3	0	3	Missense	IC	20.1	0.00009241	0.0001 in European non-Finnish
p.Lys188Met	3	3	0	Missense	IC	20.0	0.0046	0.013 in South Asian^{^b}
p.Ser144X	3	0	3	Stop-gain	EC	34	0.00005718	0.0001 in European non-Finnish
p.Arg202His	2	2	0	Missense	IC	23	0.0007783	0.003 in Ashkenazi Jewish
p.Arg72Cys	2	2	0	Missense	EC	12.96	0.00006	0.0001 in South Asian
p.Leu171Arg	2	2	0	Missense	TM	10.15	0.0001034	0.0001 in European non-Finnish
p.Phe185Cys	2	0	2	Missense	TM	24.4	0.000004095	0.000008 in European non-Finnish
p.Pro151Leu	2	2	0	Missense	EC	0.35	0.0001190	0.0001 in Latino
p.Pro42Thr	2	2	0	Missense	EC	22.5	0.00004085	0.0002 in South Asian
p.Ser194Tyr	2	0	2	Missense	IC	24.4	0.00001479	0.00003 in European non-Finnish
c.61+1 G>T	1	0	1	Splicing	EC	32	0^{^c}	-
c.61+5 G>A	1	1	0	Splicing	EC	8.46	0^{^c}	-
p.Arg14Cys	1	1	0	Missense	EC	3.69	0.00004495	0.00008 in Latino
p.Arg198His	1	1	0	Missense	IC	24.6	0.0006888	0.005 in South Asian
p.Arg202Cys	1	1	0	Missense	IC	0.12	0.0001260	0.001 in African
p.Arg67LysfsX23	1	1	0	Frameshift	EC	16.46	0^{^c}	-
p.Arg67Ser	1	1	0	Missense	EC	42	0^{^c}	-
p.Arg84Thr	1	1	0	Missense	EC	7.541	0.00003316	0.0004 I in East Asian
p.Arg9Gln	1	1	0	Missense	EC	14.13	0.00003269	0.0001 in Latino
p.Glu140Lys	1	1	0	Missense	EC	11.16	0.00002450	0.0001 in Latino
p.Gly290Asp	1	1	0	Missense	IC	22.8	0.00003770	0.0006 in East Asian
p.Lys188del	1	1	0	Deletion	IC	24.1	0.001570	0.013 in South Asian^{^b}
p.Phe21Leu	1	1	0	Missense	EC	23.3	0^{^c}	-
p.Phe21SerfsX2	1	1	0	Frameshift	EC	19.95	0^{^c}	-
p.Pro235ArgfsX169	1	1	0	Frameshift	IC	12.23	0.0001058	0.001 in East Asian
p.Pro35Leu	1	0	1	Missense	EC	23.7	0^{^c}	-
p.Pro97Arg	1	1	0	Missense	EC	22.8	0.00001634	0.00003 in European non-Finnish
p.Ser13Gly	1	1	0	Missense	EC	0.022^{^a}	0^{^c}	-
p.Thr247Met	1	1	0	Missense	IC	0.062	0.00004979	0.0005 in East Asian
p.Tyr164X	1	0	1	Stop-gain	TM	23.6	0.00004435	0.00009 in European non-Finnish

TACI variants	Total	Mono allelic	Biallelic	Type	Domain	CADD	gnomAD, MAF	Top MAF in different populations
p.Cys104Arg	65	43	22	Missense	EC	25.7	0.003400	0.005 in European non-Finnish
p.Ala181Glu	26	24	2	Missense	TM	16.01	0.005538	0.024 in European Finnish^{^b}
p.Leu69ThrfsX12	12	8	4	Frameshift	EC	22.8	0.0003949	0.005 in Ashkenazi Jewish
p.Arg72His	9	9	0	Missense	EC	0.5	0.002003	0.003 in European non-Finnish
p.Ile87Asn	7	6	1	Missense	EC	24	0.0004237	0.0007 in European non-Finnish
p.Cys172Tyr	5	5	0	Missense	TM	23.1	0.0001810	0.0004 in Ashkenazi Jewish
p.Arg122Trp	4	4	0	Missense	EC	18.64	0.0002321	0.0003 in European non-Finnish
p.Gln57His	4	4	0	Missense	EC	14.71	0.0002432	0.0007 in South Asian
p.Cys193Arg	3	0	3	Missense	IC	20.1	0.00009241	0.0001 in European non-Finnish
p.Lys188Met	3	3	0	Missense	IC	20.0	0.0046	0.013 in South Asian^{^b}
p.Ser144X	3	0	3	Stop-gain	EC	34	0.00005718	0.0001 in European non-Finnish
p.Arg202His	2	2	0	Missense	IC	23	0.0007783	0.003 in Ashkenazi Jewish
p.Arg72Cys	2	2	0	Missense	EC	12.96	0.00006	0.0001 in South Asian
p.Leu171Arg	2	2	0	Missense	TM	10.15	0.0001034	0.0001 in European non-Finnish
p.Phe185Cys	2	0	2	Missense	TM	24.4	0.000004095	0.000008 in European non-Finnish
p.Pro151Leu	2	2	0	Missense	EC	0.35	0.0001190	0.0001 in Latino
p.Pro42Thr	2	2	0	Missense	EC	22.5	0.00004085	0.0002 in South Asian
p.Ser194Tyr	2	0	2	Missense	IC	24.4	0.00001479	0.00003 in European non-Finnish
c.61+1 G>T	1	0	1	Splicing	EC	32	0^{^c}	-
c.61+5 G>A	1	1	0	Splicing	EC	8.46	0^{^c}	-
p.Arg14Cys	1	1	0	Missense	EC	3.69	0.00004495	0.00008 in Latino
p.Arg198His	1	1	0	Missense	IC	24.6	0.0006888	0.005 in South Asian
p.Arg202Cys	1	1	0	Missense	IC	0.12	0.0001260	0.001 in African
p.Arg67LysfsX23	1	1	0	Frameshift	EC	16.46	0^{^c}	-
p.Arg67Ser	1	1	0	Missense	EC	42	0^{^c}	-
p.Arg84Thr	1	1	0	Missense	EC	7.541	0.00003316	0.0004 I in East Asian
p.Arg9Gln	1	1	0	Missense	EC	14.13	0.00003269	0.0001 in Latino
p.Glu140Lys	1	1	0	Missense	EC	11.16	0.00002450	0.0001 in Latino
p.Gly290Asp	1	1	0	Missense	IC	22.8	0.00003770	0.0006 in East Asian
p.Lys188del	1	1	0	Deletion	IC	24.1	0.001570	0.013 in South Asian^{^b}
p.Phe21Leu	1	1	0	Missense	EC	23.3	0^{^c}	-
p.Phe21SerfsX2	1	1	0	Frameshift	EC	19.95	0^{^c}	-
p.Pro235ArgfsX169	1	1	0	Frameshift	IC	12.23	0.0001058	0.001 in East Asian
p.Pro35Leu	1	0	1	Missense	EC	23.7	0^{^c}	-
p.Pro97Arg	1	1	0	Missense	EC	22.8	0.00001634	0.00003 in European non-Finnish
p.Ser13Gly	1	1	0	Missense	EC	0.022^{^a}	0^{^c}	-
p.Thr247Met	1	1	0	Missense	IC	0.062	0.00004979	0.0005 in East Asian
p.Tyr164X	1	0	1	Stop-gain	TM	23.6	0.00004435	0.00009 in European non-Finnish

EC, extracellular domain; IC, intracellular domain; TM, transmembrane domain; gnomAD, Genome Aggregation Database.

Below MSC-CADD (V1.6) threshold for TACI gene: 0.027.

Specific allele in population with MAF > 0.01.

Variants never observed in normal population.

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