PAH R158Q

Source

If a mutation was annotated in HGMD to cause phenylketonuria, it was defined as disease causing.

• HGMD

Literature

The mutation causes phenylketonuria.

• Dworniczak (1989) Hum Genet 84, 95
• HGMD

Predictions

For the mutation were several predictions done.

• Task 6: Sequence-based mutation analysis
• Task 7: Structure-based mutation analysis
• Task 9: Normal Mode Analysis