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SRI

Synonyms
CP-22, CP22, SCN, V19
External resources
Summary
This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6
Likely pathogenic
6
VUS
927
Likely benign
539
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on SRI gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
33.3%
Abnormality of head or neck
25%
Abnormality of the genitourinary system
25%
Abnormality of the digestive system
16.7%
Abnormality of the immune system
16.7%
Abnormality of the nervous system
16.7%
Growth abnormality
16.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of limbs
8.3%
Abnormality of the ear
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the eye
8.3%
Abnormality of the integument
8.3%
Abnormality of the musculoskeletal system
8.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
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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