Statistics (Mutations)

A table providing information about the prevalence of the different reported mutations. 

Note: These statistics are based on data dating back to late 2008. We're currently recalculating to update the numbers, but no greater changes are anticipated.


Mutation location N
Percentage

Exonic29186.10%

Intronic298.60%

Genomic185.30%

Total:338








Mutation type


Single-amino acid substitutions (SUB)16448.50%

Frameshifts (FrS)6418.90%

Premature stop codons (PSC)5616.60%

Intronic mutation <5 bp from splice site (INT<5)267.70%

Intronic mutation >5 bp from splice site (INT>5)30.90%

Genomic deletions (gDEL)115.30%

In-frame deletions, one to several residues (DEL)72.10%

SUBs <5 bp from splice site (SUB<5)41.20%

Truncations (Subtotal for FrS, PSCs, INT>5s, INT<5s, and SUB<5s)15045.30%




Adjusted records


Mutations not referring to full-length Nav1.1, incorrect mutation data, or ambiguous reports6319.60%

Percentages in the "Mutation type" and "Corrections" categories were based on N = 338, which is the total number of mutations recorded in this review. Note that single-amino acid substitutions within 5 base pairs of the splice junction must be subtracted when the total is calculated, as they are tallied under "SUB" already.