CHROMOSOME 5 MTRR 5p15.31 GENE VIEW MTRR · 5p15.31 5p16 5p14 rs2287780 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs2287780 Arginine 415 → Cysteine C / T · MTRR · 5p15.31 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs2287780

Arginine 415 → Cysteine Gene: MTRR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase Chr 5:7889191 5p15.31 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.961567T 0.038433CC 0.925485CT/TC 0.072164TT 0.002351pop=683,110
African C 0.97437T 0.02563CC 0.949542CT/TC 0.049655TT 0.000803pop=62,270
African American C 0.97398T 0.02602CC 0.948783CT/TC 0.050385TT 0.000833pop=60,058
African Others C 0.9851T 0.0149CC 0.970163CT/TC 0.029837TT 0pop=2,212
Asian C 0.83058T 0.16942CC 0.690216CT/TC 0.28073TT 0.029054pop=16,108
East Asian C 0.82795T 0.17205CC 0.686879CT/TC 0.28214TT 0.030981pop=12,072
European C 0.967968T 0.032032CC 0.937053CT/TC 0.061829TT 0.001117pop=538,870
Latin American 1 C 0.96033T 0.03967CC 0.921841CT/TC 0.076969TT 0.00119pop=10,082
Latin American 2 C 0.8751T 0.1249CC 0.766918CT/TC 0.216355TT 0.016727pop=18,294
Other C 0.94499T 0.05501CC 0.894902CT/TC 0.100184TT 0.004914pop=33,778
Other Asian C 0.8385T 0.1615CC 0.700198CT/TC 0.276511TT 0.02329pop=4,036
South Asian C 0.9663T 0.0337CC 0.933118CT/TC 0.066343TT 0.000539pop=3,708

Studies30

Unread Studies30
1
The methionine synthase reductase (MTRR) gene encodes the MTRR enzyme involved in the metabolic pathway of homocysteine. Several studies investigated the effect of …
2
Breast cancer is more likely attributed to a combination of genetic variations and lifestyle factors. Both one-carbon metabolism and diet-related factors could interfere with the …
3
Unexpected high risk of synchronous/metachronous hepatocellular carcinoma (HCC) and transitional cell carcinoma (TCC) co-occurrence has been discovered previously. Here, we …
4
Unexpected high risk of synchronous/metachronous hepatocellular carcinoma (HCC) and transitional cell carcinoma (TCC) co-occurrence has been discovered previously. Here, we …
5
One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking …
6
To explore the associations of several genetic variants identified in the genome-wide association studies (GWAS) of European ancestry with glomerular filtration rate (GFR) …
7
… P < 0.05) and the rs2287780 polymorphism was associated with differences in pretransplant-AFP (P < 0.05). Thus, we did not perform Kaplan-Meier analysis for rs2287780 and rs10380 …
8
[Resumen]: El trasplante cardíaco (TC) continúa siendo el tratamiento de elección para pacientes con insuficiencia cardíaca (IC) avanzada. Una de las principales complicaciones tras …
9
s and aim Hepatitis B recurrence adversely affects patients' survival after liver transplantation. This study aims to find association between donor gene variations of one …
10
Expanding the scope of pharmacogenomic research by including multiple global populations is integral to building robust evidence for its clinical translation. Deep whole-genome …
11
Understanding nonmodifiable factors promoting weight gain can help clinicians reduce their bias and improve patient care. This review outlines research linking perilipins with the …
12
Hepatocellular carcinoma (HCC) is the sixth common cancer and the third common cause of cancer mortality worldwide. However, the exact molecular mechanism of HCC remains …
13
Investigations of folate‐mediated one‐carbon metabolism (FOCM) genes and gene‐nutrient interactions with respect to colorectal cancer (CRC) risk are limited to …
14
To investigate the joint effects of the single nucleotide polymorphisms (SNPs) of genes in the folic acid pathway on homocysteine (Hcy) metabolism. Methods. Four hundred …
15
Autism is a complex and both genetically and phenotypically heterogeneous neurodevelopmental condition. Some clear genetic causes have been identified but for most cases of …
16
Folate is essential for DNA synthesis and methylation and is implicated in tumour progression. Few studies have examined its role in ovarian cancer survival. Our objective …
17
The metabolism of folate involves a complex network of polymorphic enzymes that may explain a proportion of the risk associated with colorectal neoplasia. Over 60 …
18
Gastric cancer is ranked as the most common cancer in Koreans. A recent molecular biological study about the folate pathway gene revealed the correlation with a couple of cancer …
19
PCa risk is multi-factorial with both genetic and environmental influences. Candidate SNPs identifying risk of lethal PCa have been poorly characterized. This case …
20
Highly active anti-retroviral therapy (HAART) has been successful in delaying the progression to AIDS in HIV infected individuals. Exposure to HAART can result in metabolic side …
21
Global hypomethylation has been shown to increase genome instability potentially leading to increased cancer risk. We determined whether global methylation in blood leukocyte DNA …
22
We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their contribution to spina …
23
In a population‐based case‐control study, we explored the associations between 42 polymorphisms in seven genes in this region and non‐small cell lung cancer (NSCLC) risk among …
24
Folate deficiency has been implicated in the etiology of stomach cancer through abnormal DNA methylation and disrupted DNA synthesis and repair. Enzyme-coding genes involved in …
25
Dietary folate and alcohol consumption as well as polymorphic variants in one-carbon metabolism genes may modulate risk of colorectal adenoma through aberrant DNA methylation …
26
The Ala 222 Val single nucleotide polymorphism (SNP) in the gene for 5,10-methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in one-carbon metabolism, has been …
27
Methionine synthase reductase (MTRR) regenerates methylated cobalamin levels from the oxidised cob(II)alamin form and in so doing plays a crucial role in maintaining the active state …
28
… For example, rs10064631 and rs41283145 in the MTRR gene were enriched among affected infants compared to the 1,000 genomes, whereas rs2287780 in the MTRR gene was …
29
… 1 rs2287780 … Four SNPs (rs2287779, rs2287780, rs2303080, rs16879334) are located within the same gene MTRR, and the remaining one (rs41292755) is within the gene FREM2 on …
30
The information expressed in these documents does not constitute an attempt to practice medicine nor does it establish a doctor-patient relationship. This document is for informational …
Curated Studies0

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Unused Studies0

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