Table 2. SLCO2A1 mutations in individuals with chronic nonspecific multiple ulcers of the small intestine.
| No. | Genomic Position chr3 (hg19) | Exon | Nucleotide Change | Predicted Effect* | Mutant Allele Frequency | ||||
|---|---|---|---|---|---|---|---|---|---|
| CNSU † (n = 16) | Control (n = 747) | HGVD | CD † (n = 603) | ||||||
| 1 | 133,674,014 | 4 | c.421G>T ‡ | E141X | - | 1/32 | 1/858 | 1/1194 | |
| 2 | 133,673,888 | 4 | c.547G>A § | G183R | Deleterious | 0/32 | 0 | 1/1194 | |
| 3 | 133,672,567 | 5 | c.664G>A | G222R | Deleterious | 4/32 | 0 | 1/858 | 0 |
| 4 | 133,667,736 | 7 | c.940+1G>A | Splice | - | 19/32 | 3/1494 | 3/1330 | 11/1206 |
| 5 | 133,664,028 | 10 | c.1372G>T | V458F | Deleterious | 2/32 | 0 | 0 | |
| 6 | 133,663,938 | 10 | c.1461+1G>C | Splice | - | 2/32 | 0 | 0 | 0 |
| 7 | 133,654,625 | 13 | c.1807C>T | R603X | - | 4/32 | 0 | 0 | 0 |
*Mutation pathogenicity according to SIFT, PolyPhen–2, and PROVEAN.
†Initial diagnosis.
‡The variant differs from rs148547180 (chr3:133674014).
§The 547G>A mutation was identified by Sanger sequencing in a genetic screening of Crohn’s disease patients.
CNSU, chronic nonspecific multiple ulcers of the small intestine; HGVD, Human Genetic Variation Database for the Japanese population; CD, Crohn’s disease.