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|
|Single-amino acid substitutions (SUB)||164||48.50%|
|Premature stop codons (PSC)||56||16.60%|
|Intronic mutation <5 bp from splice site (INT<5)||26||7.70%|
|Intronic mutation >5 bp from splice site (INT>5)||3||0.90%|
|Genomic deletions (gDEL)||11||5.30%|
|In-frame deletions, one to several residues (DEL)||7||2.10%|
|SUBs <5 bp from splice site (SUB<5)||4||1.20%|
|Truncations (Subtotal for FrS, PSCs, INT>5s, INT<5s, and SUB<5s)||150||45.30%|
|Mutations not referring to full-length Nav1.1, incorrect mutation data, or ambiguous reports||63||19.60%|
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.