MTMR11

Chr 1

myotubularin related protein 11

Also known as: CRA

NCBI Gene: 10903 ENSG00000014914 UniProt: A4FU01

Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Research

Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.09LOEUF

pLI 0.000

Z-score 1.07

OE 0.83 (0.64–1.09)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.98Z-score

OE missense 0.86 (0.79–0.94)

343 obs / 398.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.64–1.09)

0≤0.351.4

Missense OE?0.86 (0.79–0.94)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 39 / 46.9Missense obs/exp: 343 / 398.3Syn Z: -0.73

Background carrier burden — how many people carry a rare variant somewhere in MTMR11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

866 rare PASS variants

Rare truncating (LoF)

1 in 630

172 rare PASS variants

Rare synonymous (reference)

1 in 230

353 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MTMR11. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 81	1 in 780
South Asian	~43k	1 in 48	1 in 210
Remaining (unassigned)	~30k	1 in 54	1 in 640
European (Finnish)	~27k	1 in 260	1 in 2,200
Admixed American	~22k	1 in 59	1 in 350
African / African American	~21k	1 in 61	1 in 400
East Asian	~20k	1 in 95	1 in 410
Ashkenazi Jewish	~13k	1 in 170	1 in 660
Middle Eastern	~2,884	1 in 78	1 in 480

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 16 of 17 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 17.? see exons ↓