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SLC3A1

Synonyms
ATR1, CSNU1, D2H, NBAT, RBAT
External resources
Summary
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

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
20
Likely pathogenic
9
VUS
4,702
Likely benign
1,984
Benign
0

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on SLC3A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.6%
Abnormality of the musculoskeletal system
26.9%
Abnormality of head or neck
19.2%
Abnormality of the ear
19.2%
Abnormality of the eye
19.2%
Abnormality of the cardiovascular system
15.4%
Growth abnormality
11.5%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of limbs
7.7%
Abnormality of the endocrine system
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormality of prenatal development or birth
3.8%
Abnormality of the digestive system
3.8%
Abnormality of the integument
3.8%
Abnormality of the respiratory system
3.8%
Constitutional symptom
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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