AS3MT

Chr 10

arsenite methyltransferase

Also known as: CYT19

NCBI Gene: 57412ENSG00000214435UniProt: Q9HBK9

AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.31
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.31LOEUF
pLI 0.000
Z-score 0.53
OE 0.87 (0.59–1.31)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.96Z-score
OE missense 0.81 (0.71–0.92)
165 obs / 203.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.59–1.31)
0≤0.351.4
Missense OE?0.81 (0.71–0.92)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 17 / 19.5Missense obs/exp: 165 / 203.6Syn Z: 1.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AS3MT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients