Table 3.
Summary of Known and Predicted Pathogenic HMBS Variants in Caucasians in Genomic/Exomic Databases
| cDNA Changesa | Amino Acid Changesb | CpG dinucleotide | Reported in HGMD | HMBS Activity | Allele Frequency |
|---|---|---|---|---|---|
| c.3G>A | p.M1I | + | 0±1% | 0.000014 | |
| c.499C>T | p.R167W | + | + | 1±1% | 0.0001 |
| c.500G>A | p.R167Q | + | + | 3±1% | 0.0002 |
| c.583C>T | p.R195C | + | + | 3±1% | 0.0001 |
| c.755C>T | p.A252V | + | 10±2% c | 0.000014 | |
| c.992C>T | p.A331V | + | 12±2% c | 0.000027 | |
| c.364G>C | p.A122P | 1±1% | 0.000014 | ||
| c.482T>C | p.L161P | 1±0% | 0.000014 | ||
| c.753G>C | p.R251S | 2±0% | 0.000014 | ||
| c.354C>G | p.N118K | 2±1% c | 0.000014 | ||
| c.422+1G>A | - | 0.000014 | |||
| c.652-2delA | - | 0.000014 | |||
|
| |||||
| Total Variant Allele Frequency = | 0.00056 | ||||
a
Nucleotide numbering uses +1 as the A of the ATG translation initiation codon in
b
amino acid numbering uses +1 as the first amino acid of the NP_000181.2A
c
Variants encoding p.N118K, p.A252V and p.A331V are thermolabile and activities reported are percent of initial WT activity after 65°C at 90 min, pH 8.0