Literature summary for 1.5.1.3 extracted from

Parle-McDermott, A.; Pangilinan, F.; Mills, J.L.; Kirke, P.N.; Gibney, E.R.; Troendle, J.; OLeary, V.B.; Molloy, A.M.; Conley, M.; Scott, J.M.; Brody, L.C.
The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for Spina bifida in the Irish population (2007), Am. J. Med. Genet. A, 143A, 1174-1180.

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Application

Application	Comment	Organism
medicine	analysis of intronic 19-bp deletion polymorphism and two polymorphisms within the 3' untranslated region as candidates for risk of neural tube defect. The 829C>T polymorphism is not found to be variable within the Irish population. The 19-bp intron deletion and the 721A>T polymorphisms are found to be in linkage disequilibrium. The 19-bp intron deletion allele shows a significant protective effect in mothers of neural tube defect cases when present in one or two copies	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	analysis of intronic 19-bp deletion polymorphism and two polymorphisms within the 3' untranslated region as candidates for risk of neural tube defect. The 829C>T polymorphism is not found to be variable within the Irish population. The 19-bp intron deletion and the 721A>T polymorphisms are found to be in linkage disequilibrium. The 19-bp intron deletion allele shows a significant protective effect in mothers of neural tube defect cases when present in one or two copies	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)