Table 1.
Mutations and associated sequence motifs of RASAL1 in thyroid cancer
| Nucleotide change* | Codon change | Amino acid change | Exon of Location† | Sequence‡ | Sequence Motif | |
|---|---|---|---|---|---|---|
| CpG | Direct repeats | |||||
| A1031G | AAC → AGC | N344S | Exon 13 | CGTTCTAACTCCCTG | ||
| C1153T | CCC → TCC | P385S | Exon 14 | TGGATCCCTGCAAG | Yes | |
| G1201A | GCA → ACA | A401T | Exon 14 | TCAAAGGCGCACTCTC | Yes | Yes |
| C1303T | CCC → TCC | P435S | Exon 14 | CTGCCCGCCCGCCAT | Yes | |
| C1312T | CGC → TGC | R438C | Exon 14 | GCCATGCGCCTCGCC | Yes | Yes |
| G1313A | CGC → CAC | R438H | Exon 14 | GCCATGCGCCTCGCC | Yes | Yes |
| C1422A | TTC → TTA | F474L | Exon 15 | CGATTCTTCGCACC | Yes | Yes |
| G1782A | TGG → TGA | W594X | Exon 17 | ACGTCTGGCTCAGCG | ||
* Nucleotide number 1 is defined as A of the ATG translation initiation codon (GeneBank accession No. NM_004658).
† The exon structure is based on the RASAL1 cDNA sequence (GeneBank accession No. NM_004658).
‡ The mutated nucleotides are underlined and all the motif sequences containing the mutation are in bold. The direct repeat sequences are further italicized to distinguish them from the CpG motif. Only direct repeats with less than two nucleotides in-between are taken into account in this study. A single mutation could be classified into more than one specific sequence (eg, CpG motif or direct repeat), because a mutation might be caused independently by more than one mechanism (40).