Table 1. Genetic information of reported... | Rockefeller University Press

Table 1.

Genetic information of reported STAT20-deficient patients

Patient	Nucleotide change	Deduced amino acid change	MAF	Intron/Exon	CADD score	Predicted effect	In silico splicing prediction	Effect on STAT2 mRNA and protein	Reference
P1 and P2	c.1467_1468insC	K490Qfs*41	Private	Exon 17	24	Frameshift + stop-gain		Complete loss of expression of STAT2	Current report
P3	c.941+1G>T	–	Private	Intron 9	33	Splice mutation	Disrupted WT donor splice site	Complete loss of expression of STAT2	Current report
P4–P9	c.381+5G>C	NA	Private	Intron 4	11.71	Splice mutation	Disrupted WT donor splice site	Retention of introns 4 and 6, skipping of exons 16 and 17, nonsense-mediated decay, and complete loss of expression of STAT2	(16, 17)
P10 and P11	c.1836C>A	C612X	Private	Exon 20	37	Stop-gain		Complete loss of expression of STAT2	(24)
P12 and P13	c.1528C>T c.1576G>A	R510X NA	Private	Exon 17 Exon 16	35 33	Stop-gain Splice mutation	Disrupted WT donor splice site	cDNA nonsense-mediated decay and complete loss of expression of STAT2	(25)
P14 and P15	c.1883_1884del	V628fs*14	Private	Exon 21	34	Frameshift + stop-gain		Complete loss of expression of STAT2	(16)
P16–P18	c.988C>T	R330X	Private	Exon 10	36	Stop-gain		Complete loss of expression of STAT2	(16)
P19–P22	c.820C>T	Q274X	Private	Exon 9	34	Stop-gain		Complete loss of expression of STAT2	(16)
P23	c.1999C>T	R667X	Private	Exon 21	38	Stop-gain		Complete loss of expression of STAT2	(21)
P24	c.1209+1delG	NA	Private	Intron 13	24.1	Splice mutation	Disrupted WT donor splice site	Complete loss of expression of STAT2	(26)
P25 and P26	DelChr12:56360796-56352109/DelChr12:56355504-56348082	NA	Private	5′ upstream-intron 8 Exon 5-intron 19	NA	Large deletion		Complete loss of expression of STAT2	(16)
P27	c.633+2T>C		Private	Intron 7		Splice mutation	Disrupted WT donor splice site	Complete loss of expression of STAT2	(27)
P28	c.2053C>T c.1838C>T	Q685X S613F	Private	Exon 22 Exon 20	35 29.4	Stop-gain		Complete loss of expression of STAT2	(22)

Patient	Nucleotide change	Deduced amino acid change	MAF	Intron/Exon	CADD score	Predicted effect	In silico splicing prediction	Effect on STAT2 mRNA and protein	Reference
P1 and P2	c.1467_1468insC	K490Qfs*41	Private	Exon 17	24	Frameshift + stop-gain		Complete loss of expression of STAT2	Current report
P3	c.941+1G>T	–	Private	Intron 9	33	Splice mutation	Disrupted WT donor splice site	Complete loss of expression of STAT2	Current report
P4–P9	c.381+5G>C	NA	Private	Intron 4	11.71	Splice mutation	Disrupted WT donor splice site	Retention of introns 4 and 6, skipping of exons 16 and 17, nonsense-mediated decay, and complete loss of expression of STAT2	(16, 17)
P10 and P11	c.1836C>A	C612X	Private	Exon 20	37	Stop-gain		Complete loss of expression of STAT2	(24)
P12 and P13	c.1528C>Tc.1576G>A	R510XNA	Private	Exon 17Exon 16	3533	Stop-gainSplice mutation	Disrupted WT donor splice site	cDNA nonsense-mediated decay and complete loss of expression of STAT2	(25)
P14 and P15	c.1883_1884del	V628fs*14	Private	Exon 21	34	Frameshift + stop-gain		Complete loss of expression of STAT2	(16)
P16–P18	c.988C>T	R330X	Private	Exon 10	36	Stop-gain		Complete loss of expression of STAT2	(16)
P19–P22	c.820C>T	Q274X	Private	Exon 9	34	Stop-gain		Complete loss of expression of STAT2	(16)
P23	c.1999C>T	R667X	Private	Exon 21	38	Stop-gain		Complete loss of expression of STAT2	(21)
P24	c.1209+1delG	NA	Private	Intron 13	24.1	Splice mutation	Disrupted WT donor splice site	Complete loss of expression of STAT2	(26)
P25 and P26	DelChr12:56360796-56352109/DelChr12:56355504-56348082	NA	Private	5′ upstream-intron 8Exon 5-intron 19	NA	Large deletion		Complete loss of expression of STAT2	(16)
P27	c.633+2T>C		Private	Intron 7		Splice mutation	Disrupted WT donor splice site	Complete loss of expression of STAT2	(27)
P28	c.2053C>Tc.1838C>T	Q685XS613F	Private	Exon 22Exon 20	3529.4	Stop-gain		Complete loss of expression of STAT2	(22)

MAF, minor allele frequency; WT, wild type.