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SAG

Synonyms
RP47, S-AG
External resources
Summary
Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness.

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
191
Likely pathogenic
0
VUS
2,489
Likely benign
1,598
Benign
158

Patient Phenotypes

Proportions of phenotypes among 190 patients carrying pathogenic or likely pathogenic variants on SAG gene are displayed below. The following symptoms were found in patients with a variant in SAG. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the musculoskeletal system
25.3%
Abnormality of head or neck
19.5%
Growth abnormality
16.3%
Abnormality of the eye
12.1%
Abnormality of blood and blood forming tissues
10.5%
Abnormality of the ear
9.5%
Abnormality of the cardiovascular system
7.9%
Abnormality of the genitourinary system
7.9%
Abnormality of limbs
4.7%
Abnormality of metabolism homeostasis
4.7%
Abnormality of the digestive system
4.7%
Abnormality of the integument
4.7%
Abnormality of the immune system
4.2%
Abnormality of the endocrine system
3.2%
Abnormality of the respiratory system
2.6%
Neoplasm
1.6%
Abnormality of prenatal development or birth
0.5%
Abnormality of the breast
0.5%
Constitutional symptom
0.5%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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