MYPN

Chr 10

myopalladin

Also known as: CMD1DD, CMH22, CMYO24, CMYP24, MYOP, NEM11, RCM4

NCBI Gene: 84665ENSG00000138347UniProt: Q86TC9

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital myopathy 24
UniProtCardiomyopathy, dilated, 1KK
UniProtCardiomyopathy, familial hypertrophic, 22
UniProtCardiomyopathy, familial restrictive 4

Clinical highlights

Gene-disease validity (ClinGen)
MYPN-related myopathy · ARDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.51
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — MYPN
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.000
Z-score 4.65
OE 0.35 (0.25–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.13Z-score
OE missense 0.99 (0.93–1.05)
716 obs / 725.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.25–0.51)
0≤0.351.4
Missense OE?0.99 (0.93–1.05)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 21 / 59.8Missense obs/exp: 716 / 725.8Syn Z: -0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYPN · 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