SMDT1

Chr 22

single-pass membrane protein with aspartate rich tail 1

Also known as: C22orf32, DDDD, EMRE

NCBI Gene: 91689ENSG00000183172UniProt: Q9H4I9

This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.61
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?
1.61LOEUF
pLI 0.183
Z-score 0.89
OE 0.39 (0.14–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.10Z-score
OE missense 1.03 (0.85–1.26)
69 obs / 66.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.39 (0.14–1.61)
0≤0.351.4
Missense OE?1.03 (0.85–1.26)
0≤0.61.4
Synonymous OE?1.42
0≤1.21.6
LoF obs/exp: 1 / 2.5Missense obs/exp: 69 / 66.7Syn Z: -1.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SMDT1 · 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