Juvenile Myopathy, Encephalopathy, Lactic Acidosis AND Stroke(MELAS syndrome)
An MT inheritance mode(s) within the Metabolic disorders category
Candidate Gene Information
An MT inheritance mode(s) within the Metabolic disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | MT-TL1/4567 | mitochondrially encoded tRNA leucine 1 (UUA/G) | - | ChrMT, NC_012920.1 (3230..3304) |
75 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MT-ND6/4541 | mitochondrially encoded NADH dehydrogenase 6 | - | ChrMT, NC_012920.1 (14149..14673, complement) |
525 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | MT-ND5/4540 | mitochondrially encoded NADH dehydrogenase 5 | - | ChrMT, NC_012920.1 (12337..14148) |
1812 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MT-ND1/4535 | mitochondrially encoded NADH dehydrogenase 1 | - | ChrMT, NC_012920.1 (3307..4262) |
956 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | NDUFS1/4719 | NADH:ubiquinone oxidoreductase core subunit S1 | 2q33.3 | Chr2, NC_000002.12 (206114817..206159444, complement) |
44628 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | MT-TR/4573 | mitochondrially encoded tRNA arginine | - | ChrMT, NC_012920.1 (10405..10469) |
65 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | MT-TH/4564 | mitochondrially encoded tRNA histidine | - | ChrMT, NC_012920.1 (12138..12206) |
69 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | MT-TS2/4575 | mitochondrially encoded tRNA serine 2 (AGU/C) | - | ChrMT, NC_012920.1 (12207..12265) |
59 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | MT-TL2/4568 | mitochondrially encoded tRNA leucine 2 (CUN) | - | ChrMT, NC_012920.1 (12266..12336) |
71 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | MT-TE/4556 | mitochondrially encoded tRNA glutamic acid | - | ChrMT, NC_012920.1 (14674..14742, complement) |
69 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | MT-TT/4576 | mitochondrially encoded tRNA threonine | - | ChrMT, NC_012920.1 (15888..15953) |
66 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | MT-TP/4571 | mitochondrially encoded tRNA proline | - | ChrMT, NC_012920.1 (15956..16023, complement) |
68 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | MT-TV/4577 | mitochondrially encoded tRNA valine | - | ChrMT, NC_012920.1 (1602..1670) |
69 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | MT-TI/4565 | mitochondrially encoded tRNA isoleucine | - | ChrMT, NC_012920.1 (4263..4331) |
69 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | MT-TQ/4572 | mitochondrially encoded tRNA glutamine | - | ChrMT, NC_012920.1 (4329..4400, complement) |
72 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | MT-TM/4569 | mitochondrially encoded tRNA methionine | - | ChrMT, NC_012920.1 (4402..4469) |
68 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | MT-TW/4578 | mitochondrially encoded tRNA tryptophan | - | ChrMT, NC_012920.1 (5512..5579) |
68 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | MT-TF/4558 | mitochondrially encoded tRNA phenylalanine | - | ChrMT, NC_012920.1 (577..647) |
71 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | MT-TD/4555 | mitochondrially encoded tRNA aspartic acid | - | ChrMT, NC_012920.1 (7518..7585) |
68 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | MT-TK/4566 | mitochondrially encoded tRNA lysine | - | ChrMT, NC_012920.1 (8295..8364) |
70 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | MT-TG/4563 | mitochondrially encoded tRNA glycine | - | ChrMT, NC_012920.1 (9991..10058) |
68 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | MT-CYB/4519 | mitochondrially encoded cytochrome b | - | ChrMT, NC_012920.1 (14747..15887) |
1141 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MalaCards NORD | ||||||||