rs863225468
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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.
|
22012326 |
2012 |
rs863225468
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
|
21849667 |
2011 |
rs863225468
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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).
|
18931342 |
2009 |
rs863225468
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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.
|
22012326 |
2012 |
rs863225469
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
|
21849667 |
2011 |
rs863225469
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolytic anemia, was found to be associated with a mutation (Phe65Ser or Ile61Arg) in RHAG.
|
22012326 |
2012 |
rs863225469
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
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).
|
18931342 |
2009 |
rs863225469
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolytic anemia, was found to be associated with a mutation (Phe65Ser or Ile61Arg) in RHAG.
|
22012326 |
2012 |
rs863225469
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs1554174425
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs863225468
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|