Table 3
From: The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation
Locus | Disease | Allele | Hom/Het | BLAST hits | Cloning data |
|---|---|---|---|---|---|
Leu | MM/CPEO | T 3250C | -/+ | C = 16; A = 1 | C = 17 |
Leu | CPEO | C 3254T | +/- | T = 18; A = 2 | T = 2, 4 and 17 |
Leu | MELAS | T 3291C | -/+ | C = 17 | C = 2, 4 and 17 |
ND1 | NIDDM; LHON; PEO | G 3316A | +/- | A = 17 | A = 2, 4, 16, 17 |
ND1 | LHON | G 3496T | +/- | T = 14; A = 2 | T = X, 2, 4, 16, & 17 |
ND1 | MELAS | G 3697A | -/+ | A = 3; C = 1 | A = 2 & 4; G = X, 16, 17 |
ND1 | Adult-Onset Dystonia | A 3796G | -/+ | G = 6 | A = 2,4 & 17; G = X & 16 |
ADPD/Hearing Loss & | |||||
Gln | Migrane | T 4336C | +/+ | C = 1 | C = 17 |
ND2 | AD;PD | G 5460T/A | +/+ | T = 5; A = 9 | G = 1 (2); T = 2 |
Asn | CPEO/MM | G 5703A | -/+ | A = 24 | A = 17 |
COI | PCA | G 5913A | +/- | A = 18; T = 1 | G = 1(2); A = 17 |
Myogloinuria; Exercise | |||||
CO1 | Intolerance | G 5920A | -/+ | A = 0 | G = 1 (2); A = 17 |
CO1 | PCA | G 5973A | +/- | A = 3 | G = 1(2); A = 17 |
COI | PCA | G 6081A | +/- | A = 1; T = 1 | G = 1 (2); A = 17 |
Ser | MM/Exercise Intolerance | G 7497A | +/+ | A = 14 | A = 5 |
ATP6 | LDYT | G 8950A | +/- | A = 2 | A = 5 |
ATP6 | Leigh Disease | T 9185C | -/+ | C = 1 | C = 5 |
ND4 | MELAS | A 11084G | +/+ | G = 9 | G = 9 |
His | MICM | G 12192A | +/- | A = 9 | G = 5 (3); A = 2(5) |
ND5 | LHON | G 13708A | +/- | A = 15 | A = 5 & 9 |
Paracrystalline Inclusions | |||||
CYTB | with Exercise Intolerance | G 15497A | +/- | A = 2 | A = 17 |
Thr | Multiple Sclerosis | G 15927A | +/- | A = 5 | G = 5; A = 17 |
Type 2 Diabetes; | |||||
D-Loop | Cardiomyopathy | T 16189C | +/+ | C = 0 | C = 17 |