Table 1.
Age-related heteroplasmic mtDNA CR variant reported as somatic mutations and germ-line variations in various haplogroups
| Sequence variation | Germ line
|
Somatic tissue specificity | |
|---|---|---|---|
| Clusters | No. of cases (total 444) | ||
| C150T | Lo (26, 27) | 2 | Leukocyte, fibroblast (5) |
| L2 (24, 26–28) | 9 | ||
| L3 (26, †) | 8 | ||
| G (26) | 1 | ||
| M* (†) | 2 | ||
| D (29, 30, †) | 3 | ||
| N no R (26, 30, 31) | 4 | ||
| N1b (24) | 1 | ||
| U* (†) | 1 | ||
| U2 (28) | 1 | ||
| U3 (28) | 2 | ||
| U5 (26, 28, 32, †) | 11 | ||
| J (24, 32–34, †) | 9 | ||
| T (26, 28, †) | 3 | ||
| HV* (28) | 1 | ||
| H (26, †) | 2 | ||
| A189G | Lo (24, 26–28, 32, 35) | 7 | Skeletal muscle (2) |
| U5 (†) | 1 | ||
| L3 (26) | 1 | ||
| W (24, 28, 32) | 39 | ||
| B (36) | 2 | ||
| J (32) | 2 | ||
| V (32) | 1 | ||
| T408A | L3 (26) | 1 | Skeletal muscle (3) |
| M* (29) | 1 | ||
| T414G | — | — | Fibroblast (4), skeletal muscle (2) |
References are given in parentheses.
†
Unpublished data.