rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
BEFREE |
These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secreted except for G84R and in contrast to wild-type and hyperproinsulinemia-associated mutant proteins (H34D and R89H) which were sorted to secretory granules and efficiently secreted.
|
20034470 |
2010 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
BEFREE |
This study reports a two-generation European-Caucasian family with hyperproinsulinaemia due to a substitution of His for Arg at position 65 in proinsulin, the seventh now identified worldwide and the second from Europe.
|
9667398 |
1998 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
BEFREE |
In conclusion, our data demonstrate hyperproinsulinemia in a three-generation Caucasian family due to heterozygous mutant Arg65-->His proinsulin.
|
8636380 |
1996 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
UNIPROT |
A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).
|
1601997 |
1992 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
BEFREE |
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
|
2196279 |
1990 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
UNIPROT |
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
|
2196279 |
1990 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
UNIPROT |
A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.
|
3470784 |
1987 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.840 |
GeneticVariation |
UNIPROT |
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
|
4019786 |
1985 |
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
G |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
T |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs28933985
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
A |
0.840 |
CausalMutation |
CLINVAR |
|
|
|
rs121918101
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.810 |
GeneticVariation |
BEFREE |
These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secreted except for G84R and in contrast to wild-type and hyperproinsulinemia-associated mutant proteins (H34D and R89H) which were sorted to secretory granules and efficiently secreted.
|
20034470 |
2010 |
rs121918101
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).
|
1601997 |
1992 |
rs121918101
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
|
2196279 |
1990 |
rs121918101
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.810 |
GeneticVariation |
UNIPROT |
A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.
|
3470784 |
1987 |
rs121918101
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
|
0.810 |
GeneticVariation |
UNIPROT |
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
|
4019786 |
1985 |
rs121918101
|
INS;INS-IGF2
|
Hyperproinsulinemia
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121908260
|
INS;INS-IGF2
|
Maturity-onset diabetes of the young, type 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.
|
25423173 |
2014 |
rs121908278
|
INS;INS-IGF2
|
Maturity-onset diabetes of the young, type 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.
|
25423173 |
2014 |
rs121908260
|
INS;INS-IGF2
|
Maturity-onset diabetes of the young, type 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
|
20226046 |
2010 |
rs121908278
|
INS;INS-IGF2
|
Maturity-onset diabetes of the young, type 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
|
20226046 |
2010 |
rs121908260
|
INS;INS-IGF2
|
Maturity-onset diabetes of the young, type 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
|
18192540 |
2008 |
rs121908260
|
INS;INS-IGF2
|
Maturity-onset diabetes of the young, type 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
|
18162506 |
2008 |
rs121908261
|
INS;INS-IGF2
|
DIABETES MELLITUS, INSULIN-DEPENDENT, 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
|
18192540 |
2008 |
rs121908277
|
INS;INS-IGF2
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation |
UNIPROT |
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
|
18162506 |
2008 |