KEGG   VARIANT: 3630v1
Entry
3630v1                      Variant                                
Name
INS mutation
Type
Loss of function
Gene
INS  insulin [KO:K04526]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176730
Network
nt06325  Hormone/cytokine signaling
Disease
H00408  Type 1 diabetes mellitus
H00410  Maturity onset diabetes of the young (MODY)
H00512  Permanent neonatal diabetes mellitus
Reference
  Authors
Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI, Njolstad PR
  Title
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
  Journal
Diabetes 57:1131-5 (2008)
DOI:10.2337/db07-1467
Reference
  Authors
Stoy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI
  Title
Insulin gene mutations as a cause of permanent neonatal diabetes.
  Journal
Proc Natl Acad Sci U S A 104:15040-4 (2007)
DOI:10.1073/pnas.0707291104
Reference
  Authors
Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T
  Title
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
  Journal
BMC Med Genet 11:42 (2010)
DOI:10.1186/1471-2350-11-42
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