. 2024 Aug 6;15(8):1033. doi: 10.3390/genes15081033

Table 1.

KDM5B variants identified in the 21 individuals of our cohort.

No.	Genetic Variant (hg19/GRCh37)	cDNA Variant (NM_001314042.1)	Protein Variant	Inheritance	Predicted Effect	Pathogenicity Score (CADD) ^a	gnomAD (Allele Count) ^b
1	chr1:g.207207771A>G	c.3769T>C	p.Cys1257Arg	De novo	Missense	30	N/A
2	chr1:g.20716061A>G	c.2887T>C	p.Cys963Arg	De novo	Missense	22.2	N/A
3	chr1:g.202718129C>T	c.2068G>A	p.Asp690Asn	De novo	Missense	25.8	N/A
4	chr1:g.202722085T>C	c.1757A>G	p.His586Arg	De novo	Missense	26	N/A
5	chr1:g.202715006G>A	c.2411T>C	p.Ala804Val	De novo	Missense	27.8	N/A
6	chr1:g.202772777T>G	c.157C>T	p.Arg53Trp	De novo	Missense	28.3	N/A
7	chr1:g.202725556A>C	c.1394T>G	p.Ile465Ser	De novo	Missense	29.1	N/A
8	chr1:g.202724476C>G	c.1569C>G	p.Leu523Phe	De novo	Missense	23.9	N/A
9	chr1:g.202719900G>A	c.1816C>T	p.Arg606Ter	De novo	Nonsense	36	2
10	chr1:g.202702711G>A	c.3835C>T	p.Arg1279Ter	Mother negative, father not tested	Nonsense	39	1
11	chr1:g.202702711G>A	c.3835C>T	p.Arg1279Ter	De novo	Nonsense	39	1
12	chr1:g.202727602G>A	c.1222C>T	p.Gln408Ter	De novo	Nonsense	38	N/A
13	chr1:202731824:CACA:CA Deletion (2bp)a	c.1026+2_1026+3del	N/A	De novo	Splicing	N/A	N/A
14	chr1:g.202725483T>C	c.1464+3A>G	N/A	De novo	Splicing	23.2	N/A
15	chr1:g.202711876TTGTC>T	c.2485_2488del	p.Asp829MetfsTer9	Inherited from affected father	Frameshift	N/A	N/A
16	chr1:g.202733231_202733240del	c.853_862del	p.Thr285GlufsTer5	De novo	Frameshift	N/A	N/A
17	chr1:g.202704625insA	c.3463_3464insT	p.Ser1155MetfsTer9	De novo	Frameshift	N/A	N/A
18	chr1:g.202742411AACTdel	c.408_411del	p.Val137GlnfsTer54	Inherited from affected mother	Frameshift	N/A	N/A
19	chr1:g.202320001_203070000del	N/A	N/A	De novo	Whole gene deletion	N/A	N/A
20	chr1:g.202709936G>A	c.3058C>T	p.Arg1020Ter	De novo	Nonsense	44	2
20	chr1:g.202702855A>G	c.3691T>C	p.Cys1231Arg	Inherited	Missense	29.3	N/A
21	chr1:g.202777430C>A	c.4G>T	p.Glu2Ter	Inherited from unaffected parents	Nonsense	37	N/A
21	chr1:g.202729568C>T	c.1160G>A	p.Trp387Ter	Inherited from unaffected parents	Nonsense	41	N/A

All patients were heterozygous for KDM5B variants; ^a CADD v1.4 scores range from 1 to 99, with a higher score indicating greater deleteriousness. ^b Refers to total allele counts and total frequencies in gnomAD dataset v2.1.1. (allele count is the same in the non-neuro subset). “N/A” indicates “non applicable”.