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CAPN1

Synonyms
CANP, CANP1, CANPL1, SPG76, muCANP, muCL
External resources
Summary
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene.

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
10
Likely pathogenic
1
VUS
5,314
Likely benign
803
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on CAPN1 gene are displayed below. The following symptoms were found in patients with a variant in CAPN1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
70%
Abnormality of the musculoskeletal system
40%
Abnormality of head or neck
30%
Abnormality of the cardiovascular system
30%
Abnormality of the eye
20%
Abnormality of the immune system
20%
Abnormal cellular phenotype
10%
Abnormality of blood and blood forming tissues
10%
Abnormality of metabolism homeostasis
10%
Abnormality of the digestive system
10%
Abnormality of the integument
10%
Growth abnormality
10%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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