Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS MUTATION
INS MUTATION
INS p.Arg89Leu (p.R89L), INS-IGF2 c.187+866G>T ( ENST00000512523.1, ENST00000381330.5, ENST00000397270.1, ENST00000397262.5, ENST00000250971.7 )
INS p.Arg89Pro (p.R89P), INS-IGF2 c.187+866G>C ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Arg89His (p.R89H), INS-IGF2 c.187+866G>A ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Gly84Arg (p.G84R), INS-IGF2 c.187+850G>A ( ENST00000250971.7, ENST00000397262.5, ENST00000381330.5, ENST00000397270.1, ENST00000512523.1 )
INS p.His34Asp (p.H34D), INS-IGF2 p.His34Asp (p.H34D) ( ENST00000381330.5, ENST00000397270.1, ENST00000397262.5, ENST00000250971.7, ENST00000512523.1 )
INS p.Arg89Leu (p.R89L), INS-IGF2 c.187+866G>T ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Arg89Pro (p.R89P), INS-IGF2 c.187+866G>C ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Arg89His (p.R89H), INS-IGF2 c.187+866G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.Gly84Arg (p.G84R), INS-IGF2 c.187+850G>A ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 )
INS p.His34Asp (p.H34D), INS-IGF2 p.His34Asp (p.H34D) ( ENST00000250971.7, ENST00000381330.5, ENST00000397262.5, ENST00000512523.1, ENST00000397270.1 ) - Associated Disease
- Hyperproinsulinemia
- Source Database
- DisGeNET
- Description
- 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.
- Pubmed
- 20034470
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122985860592883
- Year of publication
- 2010
Drugs