SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

Table 5 Rare variants in SHROOM3

Patient ID	Amino acid	Predicted pathogenicity	Allele	hg19 coordinates
LAT0820	p.E1775K	- - -	Homozygous	chr4: 77,680,822
LAT0844	p.P173H	+ + +	Heterozygous	chr4:77,652,019
LAT0982	p.G1864D	+ + +	Heterozygous	chr4:77,692,019
LAT0990	p.D537N	- - -	Homozygous	chr4: 77,660,935
LAT1180	p.G60V	+ + +	Homozygous	chr4:77,476,772

Predicted pathogenicity results are presented for PolyPhen, SIFT, and PANTHER analysis. +, probably damaging or damaging (deleterious); -, benign.

ISSN: 1474-760X