Analysis of MeCP2 Mutation Frequency

Introduction:

The charts below represents an analysis of the mutation frequency across the MeCP2 protein. The data is built in real time from patient data submitted by families of Rett patients to our symptoms database. A separate chart is drawn for each class of mutation followed by a single chart drawn from all mutations. The bar height in all charts is drawn to the same scale.

This page is not intended to be a detailed resource for the analysis of MeCP2 mutations, for such information please visit the RettBASE website

Mutation Classes:

Missense:	Mutations where the amino acid found at a given position is different from that found in the wildtype protein. The remainer of the sequence remains as wildtype.
Non-sense:	Mutations where the amino acid found at a given position is subsituted for a STOP codon. This gives rise to a truncated protein.
Frame Shift:	Mutations where all downstream amino acid sequence deviates from that found in wildtype protein. Often this gives rise to a truncated protein.

Mutation Frequency Charts:

Chart of Mutation Frequency for Missense Mutations.

Move the mouse over the bars in the chart for further information.

Wildtype Amino Acid: Residue Number: Frequency:

Chart of Mutation Frequency for Non-Sense Mutations.

Move the mouse over the bars in the chart for further information.

Wildtype Amino Acid: Residue Number: Frequency:

Chart of Mutation Frequency for Frame Shift Mutations.

Move the mouse over the bars in the chart for further information.

Wildtype Amino Acid: Residue Number: Frequency:

Chart of Mutation Frequency for All Mutations.

Move the mouse over the bars in the chart for further information.

Wildtype Amino Acid: Residue Number: Frequency: