Variant: rs121965006 

    present in Gene: CYB5R3
    present in Chromosome: 22
    Position on Chromosome: 42628233
    Alleles of this Variant: A/G

rs121965006 in CYB5R3 gene and NADH cytochrome B5 reductase deficiency PMID 9695975 1998 Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.

PMID 7718898 1995 Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.

PMID 1898726 1991 Structural role of serine 127 in the NADH-binding site of human NADH-cytochrome b5 reductase.

PMID 1707593 1991 Exonic point mutations in NADH-cytochrome B5 reductase genes of homozygotes for hereditary methemoglobinemia, types I and III: putative mechanisms of tissue-dependent enzyme deficiency.

PMID 9886302 1998 Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.

PMID 15953014 2005 Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase.

PMID 10807796 2000 A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia.

PMID 12393396 2002 Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase.

PMID 15622768 1997 [Arginine-glutamine replacement at residue 57 of NADH-cytochrome b5 reductase in Chinese hereditary methemoglobinemia].

PMID 8119939 1994 An in-frame deletion of codon 298 of the NADH-cytochrome b5 reductase gene results in hereditary methemoglobinemia type II (generalized type). A functional implication for the role of the COOH-terminal region of the enzyme.

PMID 1400360 1992 Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type).