IthaID: 2572
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1801133 | HGVS Name: | NG_013351.1:g.14783C>T |
Context nucleotide sequence:
TTGAAGGAGAAGGTGTCTGCGGGAG [C/T] CGATTTCATCATCACGCAGCTTTTC (Strand: -)
Protein sequence:
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGVDFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP
Also known as: C677T
Comments: SNP associated with avascular necrosis of the humeral and femoral heads in adult sickle cell anemia patients [PMID: 11480782]. SNP associated with increased risk of hyperhomocysteinemia in individuals from Egypt with beta-thalassaemia major. Elevated homocysteine has been identified as a risk factor for increased oxidative stress leading to endothelial and vascular dysfunction [PMID: 27187171]. SNP associated with higher incidence of pain in SCD patients from India [PMID: 23992124].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805] Pain [HP:0012531] Abnormal circulating homocysteine concentration [HP:0010919] |
Location
| Chromosome: | 1 |
|---|---|
| Locus: | NG_013351.1 |
| Locus Location: | 14783 |
| Size: | 1 bp |
| Located at: | MTHFR |
| Specific Location: | Exon 5 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Egyptian, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Kutlar A, Kutlar F, Turker I, Tural C, The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease., Hemoglobin , 25(2), 213-7, 2001
- Couto FD, Adorno EV, Menezes JF, Moura Neto JP, Rêgo MA, Reis MG, Gonçalves MS, C677T polymorphism of the MTHFR gene and variant hemoglobins: a study in newborns from Salvador, Bahia, Brazil., Cad Saude Publica , 20(2), 529-33, 2004
- Nishank SS, Singh MP, Yadav R, Clinical impact of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations among sickle cell disease patients of Central India., Eur. J. Haematol. , 91(5), 462-6, 2013
- Abd-Elmawla MA, Rizk SM, Youssry I, Shaheen AA, Impact of Genetic Polymorphism of methylenetetrahydrofolate reductase C677T on Development of Hyperhomocysteinemia and Related Oxidative Changes in Egyptian β-Thalassemia Major Patients., PLoS ONE , 11(5), e0155070, 2016