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.

Tariq et al. Genome Biology 2011 12:R91   doi:10.1186/gb-2011-12-9-r91

Open Data