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CAPN3

Synonyms
CANP3, CANPL3, LGMD2, LGMD2A, LGMDD4, LGMDR1, nCL-1, p94
External resources
Summary
Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
59
Likely pathogenic
21
VUS
5,909
Likely benign
5,153
Benign
0

Patient Phenotypes

Proportions of phenotypes among 76 patients carrying pathogenic or likely pathogenic variants on CAPN3 gene are displayed below. The following symptoms were found in patients with a variant in CAPN3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
44.7%
Abnormality of the nervous system
30.3%
Abnormality of head or neck
23.7%
Abnormality of the cardiovascular system
19.7%
Abnormality of the ear
19.7%
Abnormality of the eye
19.7%
Growth abnormality
14.5%
Abnormality of metabolism homeostasis
10.5%
Abnormality of the digestive system
10.5%
Abnormality of limbs
7.9%
Abnormality of the integument
7.9%
Abnormality of the respiratory system
7.9%
Abnormality of the genitourinary system
6.6%
Abnormality of the immune system
5.3%
Abnormality of blood and blood forming tissues
3.9%
Abnormality of the endocrine system
3.9%
Neoplasm
3.9%
Abnormality of prenatal development or birth
1.3%
Abnormality of the breast
1.3%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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