EC Number   |
Protein Variants |
Reference  |
|---|
   2.1.1.137 | M287T |
naturally occuring mutant |
697642 |
| 2.1.1.137 | M287T |
a naturally occurring T/C polymorphism in AS3MT among Japanese, Koreans, Chinese, Mongolians, Uygurs, Tibetans, Tamangs, Tamils, Sinhalese, Turks, Ovambos, Ghanaians, and Xhosas. Xhosas have the highest 287T frequency |
700331 |
| 2.1.1.137 | M287T |
genotype distribution and allele frequencies of M287T in Ovambo, Turkish, Mongolian, Korean, and Japanese populations , the mutation frequencies in Asian populations are relatively lower than those of African and Caucasian populations, the frequencies of mutation in the Mongolian, Korean, and Japanese populations, overview |
701300 |
| 2.1.1.137 | M287T |
the mutation is associated with an increased percentage of monomethylated arsenic in urine |
718712 |
| 2.1.1.137 | more |
an exon-4 and -5 skipping (DELTA4,5) truncated mutant form does not convert arsenite to monomethylarsonate or dimethylarsinic acid |
718748 |
| 2.1.1.137 | C174A |
the mutation leads to loss of As(III) methylation |
718946 |
| 2.1.1.137 | C224A |
the mutation leads to loss of As(III) methylation |
718946 |
| 2.1.1.137 | C72A |
the mutation leads to loss of As(III) methylation, but still shows trivalent methylarsenate methylation |
718946 |
| 2.1.1.137 | Y70W |
the mutant exhibits metalloid binding |
718946 |
| 2.1.1.137 | C271S |
the mutation does not affect the activity and structure of the enzyme |
719012 |
