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 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
0.810
GeneticVariation
UNIPROT
A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding.
8188715
1994
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
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
An Arg for Gly substitution at position 31 in the insulin receptor, linked to insulin resistance, inhibits receptor processing and transport.
1730625
1992
rs121913145
×
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
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.
12538626
2003
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
UNIPROT
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
1607067
1992
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
Genotype-phenotype correlation in inherited severe insulin resistance.
12023989
2002
rs121913145
×
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
rs121913145
×
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
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
Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.
9703342
1998
rs121913145
×
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
rs121913145
×
Entrez Id:
3643
Gene Symbol:
INSR
INSR
Donohue Syndrome
0.810
GeneticVariation
BEFREE
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
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
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
Two novel mutations identified in familial cases with Donohue syndrome.
24498630
2014