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MTR

Synonyms
HMAG, MS, cblG
External resources
Summary
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

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
41
Likely pathogenic
32
VUS
7,370
Likely benign
6,499
Benign
326

Patient Phenotypes

Proportions of phenotypes among 71 patients carrying pathogenic or likely pathogenic variants on MTR gene are displayed below. The following symptoms were found in patients with a variant in MTR. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood forming tissues
42.3%
Abnormality of the cardiovascular system
15.5%
Abnormality of head or neck
12.7%
Abnormality of the musculoskeletal system
12.7%
Abnormality of the digestive system
11.3%
Abnormality of the immune system
11.3%
Abnormality of metabolism homeostasis
9.9%
Abnormality of the eye
9.9%
Abnormality of the ear
8.5%
Abnormality of the genitourinary system
8.5%
Abnormality of the nervous system
7%
Abnormality of prenatal development or birth
4.2%
Growth abnormality
4.2%
Neoplasm
4.2%
Abnormal cellular phenotype
2.8%
Abnormality of limbs
2.8%
Abnormality of the integument
2.8%
Abnormality of the respiratory system
2.8%
Abnormality of the endocrine system
1.4%
Constitutional symptom
1.4%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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