PAMR1

Chr 11

peptidase domain containing associated with muscle regeneration 1

Also known as: DKFZP586H2123, FP938, RAMP

NCBI Gene: 25891ENSG00000149090UniProt: Q6UXH9

Predicted to enable calcium ion binding activity and serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
1
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score -0.68
OE 1.11 (0.88–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.46Z-score
OE missense 1.06 (0.98–1.15)
460 obs / 432.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.11 (0.88–1.43)
0≤0.351.4
Missense OE?1.06 (0.98–1.15)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 45 / 40.4Missense obs/exp: 460 / 432.8Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAMR1 · protein map & ClinVar variants

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

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