PAH R71H

Source

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

• HGMD
• dbSNP

Literature

The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.

• Zekanowski (1999) Genet Test 3, 297
• HGMD
• dbSNP

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