TABLE 2.

Classification of Genotypes Based on Phenotypic Severity as Determined by Cumulative Phenotypic Severity Score

Phenotypic SeverityMutation 1Mutation 2No. of Patients
MildΔR608ΔR6083
P323AP323A1
P330RP330R2
G245SR474W1
A196PR376H1
ModerateΔR608H567L2
ΔR608P475L2
ΔR608R496L*1
R474WFsL2601
R474WS397F1
L432PL432P1
R376LFsL3801
P184LFsL371
P323AR441X1
SevereΔR608R441X1
ΔR608R600H2
ΔR608H425K1
R496CW391G1
A196PC157R1
A196PC431R1
Q292KQ292K1
R600HR600H1
R228CR228C1
  • * A common NPD-A mutation.