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 |
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