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MTRR

Synonyms
MSR, cblE
External resources
Summary
This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants.

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
9
Likely pathogenic
0
VUS
7,457
Likely benign
1,919
Benign
187

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on MTRR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
44.4%
Abnormality of the nervous system
44.4%
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Growth abnormality
22.2%
Abnormality of the breast
11.1%
Abnormality of the ear
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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