Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome

Table 5 Identified exonic variants in the second consanguineous family

Gene (gene)	KMT5A	KMT5A	STK36	PIK3CB	GPR149	RARRES1	KPNA4	NOS1	CAMKK2	WDR66	SBNO1
Chromosome	12	12	2	3	3	3	3	12	12	12	12
Location (varLocation)	Exonic	Exonic	Exonic	Exonic	Exonic	Exonic	Exonic	Exonic	Exonic	Exonic	Intronic
Effect (codingEffect)	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous	Non-synonymous
cDNA (cNomen)	c.904>C	c.995>C	c.2516 A	c.2150>G	c.1404A>C	c.230C>T	c.1103>G	c.1922>T	c.1612_1614dupAAA	c.196_197insAGAAAGAGGAGGAGG	c.3220+5C>G
Protein (pNomen)	p.C302R	p.L332P	p.R839Q	p.N717S	p.R468S	p.P77L	p.N368S	p.A641V	p.K538dup	p.E65_G66insEKEEE	No significant splicing motif alteration detected. This mutation probably has no impact on splicing
Pathogenicity	03/11	10/11	06/11	01/11	01/11	10/11	03/11	09/11	01/11	01/11	Not available
GME Variome (%)	Not available	Not available	0.05	0.9	0.1	Not available	Not available	Not available	Not available	Not available	0.01
Gnomad browser (%)	Not available	Not available	0.7	0.1	0.04	0.004	0.003	Not available	12	Not available	0.01

GME: Greater middle east.