Table 1. Somatic Mutations of FAT1 in Human Cancers.
| Cancer type | Genomic position | Normal genotype | Tumor genotype | Amino acid change | Zygosity | Domain |
|---|---|---|---|---|---|---|
| Glioblastoma (GBM_45) | 187746975 | G | A | Thr4511Ile | heterozygous | Cytoplasmic |
| Glioblastoma (GBM_15) | 187747252 | C | A | Ala4419Ser | heterozygous | Cytoplasmic |
| Glioblastoma (GBM_76) | 187754759 | G | A | Pro4310Leu | homozygous | Cytoplasmic |
| Glioblastoma (GBM_88) | 187754763 | G | C | Pro4309Ala | heterozygous | Cytoplasmic |
| Glioblastoma (GBM_68) | 187759478 | C | T | Arg3860Lys | homozygous | Laminin G-like |
| Glioblastoma (GBM_48) | 187768088 | C | T | Gly3310Glu | heterozygous | Cadherin 31 |
| Glioblastoma (GBM_71) | 187771350 | C | T | Glu3124Lys | homozygous | Cadherin 29 |
| Glioblastoma (GBM_37) | 187794902 | C | T | Arg1268Gln1 | homozygous | Cadherin 12 |
| Glioblastoma (GBM_45) | 187867060 | C | T | Val306Met | homozygous | Cadherin 3 |
| Head & neck (HN_335) | 187867037 | C | A | Lys313Asn | heterozygous | Cadherin 3 |
| Head & neck (HN_1339) | 187778722 | A | C | Ile2004Met | heterozygous | Cadherin 19 |
| Head & neck (HN_245) | 187778722 | A | C | Ile2004Met | heterozygous | Cadherin 19 |
| Head & neck (HN_1034) | 187865550 | T | C | His809Arg | heterozygous | Cadherin 7 |
| Head & neck (HN_1034) | 187866070 | C | T | Ala636Thr | heterozygous | Cadherin 6 |
| Head & neck (HN_335) | 187867036 | C | A | Glu314* | heterozygous | Cadherin 3 |
| Colon (CR_228) | 187866347 | C | T | Trp543* | heterozygous | Cadherin 5 |
| Colon (CR_167) | 187777248 | C | T | Glu2496Lys | heterozygous | Cadherin 24 |
| Colon (CR_152) | 187867539 | C | deleted | Arg146Met fs | homozygous | Cadherin 1 |
1
The Arg1268Gln mutation is listed in dbSNP (rs113970444). In GBM_37, a somatic mutation was identified in tumor but not in matched normal tissue.
*
indicates stop codon
fs indicates frameshift