D218N |
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |
G611E |
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |
I31T |
neutral naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no effect on enzyme activity or expression, occurs together with other mutantions, overview |
Homo sapiens |
L262F |
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |
L334P |
homo- or heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts |
Homo sapiens |
L334P/Q222P |
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II |
Homo sapiens |
M1T |
homo- and heterozygous, the latter with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |
additional information |
determination and analysis of diverse naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, phenotypic effects, overview |
Homo sapiens |
P562L |
heterozygous, with a deletion on the other allele, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |
R41X/L138R |
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II |
Homo sapiens |
R452K |
homozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II |
Homo sapiens |
S82F/D218N |
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts |
Homo sapiens |
S82P/H346R |
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |
W182X/P456L |
mutations on different alleles, naturally occurring mutations of gene ETF:QO in patients with glutaric acidemia type II, reduced antigen detected in fibroblasts |
Homo sapiens |
Y49C |
heterozygous, naturally occurring mutation of gene ETF:QO in patients with glutaric acidemia type II, no antigen detected in fibroblasts |
Homo sapiens |