Summary of Mutations in hMLH1 Gene
| Cell Line . | Mutation Analysis . | mRNA . | Protein . | |
|---|---|---|---|---|
| . | Site . | Nucleotide (amino acid) . | . | . |
| P30OHK | Splicing donor site of intron 9 | AACCgtaa→AACCataa | − | − |
| CEM | Splicing donor site of intron 9 | AACCgtaa→AACCataa | + | − |
| KCL22 | Codon 259 in exon 9 | TTA(Leu)→TCA(Ser) | − | − |
| Cell Line . | Mutation Analysis . | mRNA . | Protein . | |
|---|---|---|---|---|
| . | Site . | Nucleotide (amino acid) . | . | . |
| P30OHK | Splicing donor site of intron 9 | AACCgtaa→AACCataa | − | − |
| CEM | Splicing donor site of intron 9 | AACCgtaa→AACCataa | + | − |
| KCL22 | Codon 259 in exon 9 | TTA(Leu)→TCA(Ser) | − | − |
Exonic sequences are upper case and intronic sequences are lowercase letters.