Identification | PMM activity | Mutation 1 nucleotide |
Mutation 1 amino acid | Mutation 2 nucleotide |
Mutation 2 amino acid |
PL | 0.9 (le), 2.3 (ly) | G26A (exon 1) | C9Y | G425A (exon 5) | R141H |
Co A | 0.1 (f) | TA95GC (exon 2) | L32R | ? | ? |
MT | <0.1 (f) | G385A (exon 5) | V129M | G425A (exon 5) | R141H |
HA | <0.1 (f) | T395C (exon 5) | I132T | G368A (exon 5) | R123Q |
DL | <0.1 (f), <0.1 (le) | T395C (exon 5) | I132T | G425A (exon 5) | R141H |
PA | ND | T395C (exon 5) | I132T | G425A (exon 5) | R141H |
SD | 0.5 (f), <0.1 (le) | C677G (exon 8) | T226S | G425A (exon 5) | R141H |
GL | <0.1 (f) | G691A (exon 8) | V231M | G425A (exon 5) | R141H |
PJ | <0.1 (f) | G691A (exon 8) | V231M | G425A (exon 5) | R141H |
Ch A | 0.5 (f) | G691A (exon 8) | V231M | G425A (exon 5) | R141H |
RN | <0.1 (le) | G722C (exon 8) | C241S | G425A (exon 5) | R141H |
ND = not determined.
? = no mutations found in cDNA and intron-exon junctions.