| Variation | Key | Allele counts | Haplotypes and frequency | |||||||||
| DNA | Protein | vCJD (n = 107) | sCJD (n = 415) | HC (n = 861) | *1 | *1A | *1B | *2 | *2A | *2B | *2C | |
| 5′-11A→G | – | A:G | 152:62 | 598:232 | 1155:567 | A | A | A | G | G | G | G |
| c.20C→T | p.Thr7Met | T:C | 152:62 | 598:232 | 1155:567 | T | T | T | C | C | C | C |
| c.136_137insG | p.Ala46GlyfsX294 | wt:ins | 212:2 | 830:0 | 1722:0 | wt | wt | wt | wt | wt | ins | wt |
| c.183C→T | – | C:T | 171:43 | 672:158 | 1344:378 | C | C | C | T | C | T | C |
| c.216_227delAGC CGGGGCGGC | p.Ala72_Ala75del | wt:del | 214:0 | 830:0 | 1718:4 | wt | del§ | wt | wt | wt | wt | del§ |
| c.239_240insGGC GGGAGCGGC | p.Ala79_Ala80ins AlaAlaGlyAla | wt:ins | 214:0 | 830:0 | 1721:1 | wt | wt | ins | wt | wt | wt | wt |
| vCJD | 152† (71) | 0† | 0† | 41† (19) | 19† (9) | 2† (1) | 0† | |||||
| sCJD | 598‡ (72) | 0‡ | 0‡ | 158‡ (19) | 74‡ (9) | 0‡ | 0‡ | |||||
| Control | 1151§ (67) | 3§ (<1) | 1§ (<1) | 379§ (22) | 187§ (11) | 0§ | 1§ (<1) | |||||
del, Deletion; HC, healthy controls; ins, insertion; sCJD, sporadic Creutzfeldt–Jakob disease; vCJD, variant Creutzfeldt–Jakob disease; wt, wild type.
†vCJD.
‡sCJD.
§Healthy controls.
Individual haplotypes and their frequencies, given as counts with percentages in parentheses, are displayed vertically, calculated by expectation-maximisation algorithm (Haploview).
Alleles and allele counts, together with a key to the allele counts, are displayed horizontally.
Insertion and deletion alleles are coded as wild type (wt) or ‘ins/del’ depending on the absence or presence of the indel variation compared with contig AL161645, respectively.