IthaID: 2572

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.

Heterozygous records (preview in IthaPhen)

1. 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 PubMed
2. 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 PubMed
3. 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 PubMed
4. 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 PubMed