MT1M

Chr 16

metallothionein 1M

Also known as: MT-1M, MT-IM, MT1, MT1K

NCBI Gene: 4499ENSG00000205364UniProt: P13640OMIM: 156357

This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.004
Z-score -0.37
OE 1.26 (0.51–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.09Z-score
OE missense 1.53 (1.22–1.87)
52 obs / 34.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.26 (0.51–1.91)
0≤0.351.4
Missense OE?1.53 (1.22–1.87)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 3 / 2.4Missense obs/exp: 52 / 34.1Syn Z: -0.25

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MT1M · 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