Xcode Life

Condition: STOMATOCYTOSIS I

rs863225468 in RHAG gene and STOMATOCYTOSIS I

PMID 21849667 2011 Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.

PMID 18931342 2009 DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).

PMID 22012326 2012 Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer.

PMID 22012326 2012 Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolytic anemia, was found to be associated with a mutation (Phe65Ser or Ile61Arg) in RHAG.

PMID 18931342 2009 DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser).