Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs1805087

Hard Link
rs1805087 is a snp on gene MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)

GeneMTR Chromosome number 1 Chromosome position 236885200
Alleles A/G Minor Allele G Minor Allele Frequency 0.2183
Notation ↑ 2756A>G A2756G Asp919Gly Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense variant
Gene Function
Methionine synthase (MTR)  is responsible for the regeneration of methionine from homocysteine. In humans it is encoded by the MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase). Methionine synthase forms part of the S-adenosylmethionine (SAMe) biosynthesis and regeneration cycle. Mutations in MTR have been identified as the underlying cause of methylcobalamin (a form of vitamin B12) deficiency. Deficiency or deregulation of the enzyme  in early age due to deficient methionine synthase reductase can directly result in elevated levels of homocysteine, which is associated with blindness, neurological symptoms and birth defects. Methionine synthase is inhibited by lead, arsenic, mercury and aluminum toxicity. Noteworthy: A mutation in MTR A2756G, rs1805087 causes increase function and increased methyl group depletion and a possible increased need for methylated B12. This can be made worse by MTRR mutations. 
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs13063628 (THRB) | rs225014 (DIO2) | rs12885300 (DIO2-AS1) | rs12095080 (DIO1) | rs1991517 (LOC101928462) | rs2235544 (DIO1) | rs651852 (BHMT) | rs1801131 (MTHFR) | rs1799853 (CYP2C9) | rs1801181 (CBS) | rs1801394 (MTRR)

MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2569191 (CD14) | rs20541 (IL13) | rs2844682 (MUC21) | rs4680 (COMT) | rs2476601 (PTPN22) | rs6025 (F5) | rs2075252 (LRP2) | rs1801181 (CBS)








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