GeneBe

AS3MT

arsenite methyltransferase, the group of 7BS small molecule methyltransferases

Basic information

Region (hg38): 10:102869470-102901899

Links

ENSG00000214435 ∙ NCBI:57412 ∙ OMIM:611806 ∙ HGNC:17452 ∙ Uniprot:Q9HBK9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AS3MT gene.

  • not_specified (32 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AS3MT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020682.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
32
clinvar
 32
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 32 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
AS3MTprotein_codingprotein_codingENST00000369880 1132384
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.98e-110.1441246990961247950.000385
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9621652040.8100.00001012448
Missense in Polyphen4153.4830.76659689
Synonymous1.185971.80.8220.00000369705
Loss of Function0.5291719.50.8718.22e-7258

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008530.000850
Ashkenazi Jewish0.000.00
East Asian0.0001690.000167
Finnish0.000.00
European (Non-Finnish)0.0004710.000468
Middle Eastern0.0001690.000167
South Asian0.0006920.000654
Other0.0003530.000330

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals (PubMed:16407288, PubMed:25997655). It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2 (PubMed:16407288, PubMed:25997655). Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH (PubMed:16407288, PubMed:25997655). {ECO:0000269|PubMed:16407288, ECO:0000269|PubMed:25997655}.;
Pathway
Methylation;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;arsenate detoxification I (glutaredoxin) (Consensus)

Recessive Scores

pRec
0.126

Intolerance Scores

loftool
0.831
rvis_EVS
0.55
rvis_percentile_EVS
81.38

Haploinsufficiency Scores

pHI
0.0906
hipred
N
hipred_score
0.301
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0702

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
As3mt
Phenotype
liver/biliary system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
toxin metabolic process;arsonoacetate metabolic process;methylation
Cellular component
cytosol
Molecular function
arsenite methyltransferase activity;methylarsonite methyltransferase activity