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

Table 4 Identified exonic variants in the first consanguineous family

Gene (gene)	SHPRH	SLC30A9	HBS1L	TAAR6	TAAR2	SASH1	LOC100287896	PCF11	ANKRD42	PDGFD	DIXDC1
Chromosome	6	4	6	6	6	6	11	11	11	11	11
Location (varLocation)	Exonic	Intronic	intronic	Exonic	Exonic	Exonic	Exonic	Exotic	Exonic	Exonic	Exonic
Effect (codingEffect)	Nonsynonymous			Nonsynonymous	Nonsynonymous	Nonsynonymous	Nonsynonymous	Nonsynonymous	Nonsynonymous	Nonsynonymous	Nonsynonymous
cDNA (cNomen)	c.4331C>T	c.528-7T>C	c.2043+5T>G	c.865C>T	c.467C>T	c.1126C>T	c.4C>T	c.3355C>T	c.676A>G	c.7C>G	c.226G>A
Protein (pNomen)	p.A1444V			p.P289S	p.T156I	p.P376S	p.R2C	p.H1119Y [Histidine (His)- Tyrosine (Tyr)]	p.N226D [Asparagine (Asn)- Aspartic Acid (Asp)]	p.R3G [Arginine (Arg)- Glycine (Gly)]	p.G76S [Glycine (Gly)- Serine (Ser)]
Pathogenicity	09/11	This mutation probably has no impact on splicing	Activation of an intronic cryptic donor site.	07/11	10/11	09/11		08/11	09/11	03/Nov	0/11
			Potential alteration of splicing
GME Variome (%)	Not available	Not available	Not available	0.1	Not available	Not available	Not available	0.1	0.1	0.1	Not available
Gnomad browser (%)	0.0008	0.04	0.2	0.006	0.001	0.001	0.4	0.2	0.3	0.01	0.002

GME: Greater middle east.