Sandbox GGC7: Difference between revisions
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== Disease == | == Disease == | ||
• Mutation of Glu-111 causes the enzyme to become inactive | |||
• Mutation of Pro-286 reduces the activity of the enzyme | |||
• Three mutations, when combined with mutations from another site causes an increase of enzyme activity for the breakdown of insulin and amyloids | |||
1. Ser-132 & Glu-817 | |||
2. Asn-184 & Gln-828 | |||
3. Asp-426 & Lys-899 | |||
Hyperproinsulinemia – Asp 34 mutation and/or His-89 | |||
Insulin-dependent diabetes – Cys-55 | |||
Permanent neonatal diabetes - ASP-24; ARG-32; SER-32; GLY-43; VAL-47; CYS-48; CYS-89; CYS- 90; TYR-96 AND CYS-108. | |||
Alzheimer’s - Ile-714 | |||
== Relevance == | == Relevance == | ||
