rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
The patient with leprechaunism (leprechaun/Winnipeg) came from a consanguineous pedigree and was homozygous for a missense mutation substituting arginine for His209 in the alpha-subunit of the insulin receptor.
2365819
1990
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Activation of glucose transport by a natural mutation in the human insulin receptor.
8419945
1993
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.
2834824
1988
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis.
7538143
1995
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.
9249867
1997
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
9299395
1997
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.
2479553
1989
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
C
0.810
CausalMutation
CLINVAR
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
22768670
2012
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
8326490
1993
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Genotype-phenotype correlation in inherited severe insulin resistance.
12023989
2002
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
12970295
2003
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization.
8636294
1996
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
2365819
1990
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
BEFREE
Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism .
8188715
1994
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.
9249867
1997
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure.
22768670
2012
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.
7815442
1994
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Activation of glucose transport by a natural mutation in the human insulin receptor.
8419945
1993
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
9703342
1998
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.
9299395
1997
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
28765322
2017
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
G
0.810
CausalMutation
CLINVAR
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Two novel mutations identified in familial cases with Donohue syndrome.
24498630
2014
rs121913158
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
8326490
1993