Literature summary for 4.2.1.22 extracted from

Vyletal, P.; Sokolova, J.; Cooper, D.N.; Kraus, J.P.; Krawczak, M.; Pepe, G.; Rickards, O.; Koch, H.G.; Linnebank, M.; Kluijtmans, L.A.; Blom, H.J.; Boers, G.H.; Gaustadnes, M.; Skovby, F.; Wilcken, B.; Wilcken, D.E.; Andria, G.; Sebastio, G.; Naughten, E.R.; Yap, S.; Ohura, T.; Pronicka, E.; Laszlo, A.; Ko, K.o.z.
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion (2007), Hum. Mutat., 28, 255-264.

Protein Variants

Protein Variants	Comment	Organism
additional information	c.833T4C transition (p.I278 T) in the cystathionine beta synthase gene represents the most common cause of pyridoxine-responsive homocystinuria in Western Eurasians. The frequency of the pathogenic c.833C allele, as observed in healthy newborns from several European countries, is about 20fold higher than expected on the basis of the observed number of symptomatic homocystinuria patients carrying this mutation, implying clinical underascertainment. The c.833C mutation is also present in combination with a 68-bp insertion, c.[833C, 844_845ins68], in a substantial proportion of chromosomes from nonhomocystinuric individuals worldwide	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)