PAH T278N

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.

• Guldberg (1993) Hum Mol Genet 2, 1703
• 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