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. 2021 Nov 29;22(23):12927. doi: 10.3390/ijms222312927

Table 2.

Human SECISBP2 mutations.

Age in Years (Gender) Mutation Protein Change Alleles
Affected		 Ethnicity Reference
26 (M 1); 19 (M); 19 (F 2) c.1619 G > A R540Q homozygous Saudi
Arabian		 [16]
25 (M) c.1312 A > T
c.IVS8ds + 29 G > A		 K438 *
fs431 *		 compound
heterozygous		 Irish [16]
19 (M) c.382 C > T R128 * homozygous Ghanaian [17]
18 (F) c.358 C > T
c.2308 C > T		 R120 *
R770 *		 compound
heterozygous		 Brazilian [18]
44 (M) c.668delT
c.IVS7 -155, T > A		 F223fs255 *
fs295 * + fs302 *		 compound
heterozygous		 British [19]
13 (M) c. 2017 T > C
1–5 intronic SNP’s		 C691R
fs65 * + fs76 *		 compound
heterozygous		 British [19]
15 (M) c.1529_1541dup CCAGCGCCCCACT
c.235 C > T		 M515fs563 *
Q79 *		 compound
heterozygous		 Japanese [20]
10 (M) c.800_801insA K267Kfs * 2 homozygous Turkish [21]
3.5 (M) c.283delT
c.589 C > T		 T95Ifs31 *
R197 *		 compound
heterozygous		 N/A 3 [22]
11 (F) c.2344 C > T
c.2045–2048 delAACA		 Q782 *
K682fs683 *		 compound
heterozygous		 Turkish [23]
5 (F) c.589 C > T
c.2108 G > T or C		 R197 *
E679D		 compound
heterozygous		 Argentinian [23]

1 M: Male; 2 F: Female; 3 N/A: Not available.