Table 3.
Polymorphisms of human ALDH1B1, and variant frequency by race.
mRNA | Protein | Frequency | |||||||
---|---|---|---|---|---|---|---|---|---|
Variant | Position | Wild-Type | Variant | Position | Wild-Type | Variant | 1000 Genomes | HapMap3 | dbSNP ref |
ALDH1B1*2 | 369 | C (GCC) | T (GTC) | 86 | A [Ala] | V [Val] | 0.22 | 0.25 | rs2228093 |
ALDH1B1*3 | 432 | T (CTC) | G (CGC) | 107 | L [Leu] | R [Arg] | 0.42 | 0.39 | rs2073478 |
ALDH1B1*5 | 869 | A (ATG) | G (GTG) | 253 | M [Met] | V [Val] | 0.07 | 0.10 | rs4878199 |
HapMap3 Frequency | |||||
---|---|---|---|---|---|
Variant | AFR | ASN | EUR | IND | MEX |
ALDH1B1*2 | 0.11 | 0.41 | 0.14 | 0.27 | 0.39 |
ALDH1B1*3 | 0.30 | 0.29 | 0.63 | 0.51 | 0.32 |
ALDH1B1*5 | 0.18 | 0.00 | 0.05 | 0.01 | 0.02 |