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MBOAT7

Synonyms
BB1, LENG4, LPIAT, LPLAT, LRC4, MBOA7, MRT57, OACT7, hMBOA-7
External resources
Summary
This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants.

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
14
Likely pathogenic
0
VUS
9,973
Likely benign
7,821
Benign
970

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on MBOAT7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61.5%
Abnormality of the musculoskeletal system
30.8%
Abnormality of limbs
15.4%
Abnormality of the ear
15.4%
Abnormality of the eye
15.4%
Abnormality of head or neck
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
Constitutional symptom
7.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Growth abnormality
0%
Neoplasm
0%

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