G5783A

# General Information

| **Position** | **5783** | **Variant** | **m.5783G\>A** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 66\.90% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# Pedigree Information

The **m.5783G\>A** variant in MT\-TC has been reported in 8 pedigrees. To date, 21 carriers have been reported. Homoplasmy was reported in 13/21 carriers (61\.9%), and 12/21 carriers (57\.1%) were affected. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in urine (94\.2%). The main clinical manifestations among affected carriers included severe hearing loss, major depressive disorder, mitochondrial cytopathy, moderate hearing loss, leigh syndrome, MELAS, myopathy, cardiacfailure, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5783 | m.5783G\>A |[ G5783A\-F1](https://mitofam.com/doc/542/) | India | Myopathy, cardiomyopathy, renal failure, deafness | 2 | 0 | 2006 | [16955414](https://pubmed.ncbi.nlm.nih.gov/16955414/) | Carrying T15458C,T15519C |
| 2 | 5783 | m.5783G\>A | G5783A\-F2 | India | Mitochondrial cytopathy | 1 | 0 | 2007 | [17895983](https://pubmed.ncbi.nlm.nih.gov/17895983/) |  |
| 3 | 5783 | m.5783G\>A | G5783A\-F3 | India | Mitochondrial cytopathy | 1 | 0 | 2007 | [17895983](https://pubmed.ncbi.nlm.nih.gov/17895983/) |  |
| 4 | 5783 | m.5783G\>A | G5783A\-F4 | India | Leigh syndrome | 1 | 0 | 2007 | [17895983](https://pubmed.ncbi.nlm.nih.gov/17895983/) |  |
| 5 | 5783 | m.5783G\>A | G5783A\-F5 | China | Major depressive disorder | 1 | 0 | 2025 | [39776895](https://pubmed.ncbi.nlm.nih.gov/39776895/) |  |
| 6 | 5783 | m.5783G\>A | G5783A\-F6 | China | Major depressive disorder | 0 | 0 | 2025 | [39776895](https://pubmed.ncbi.nlm.nih.gov/39776895/) |  |
| 7 | 5783 | m.5783G\>A | [G5783A\-F7](https://mitofam.com/doc/543/) | China | MELAS | 1 | 0 | 2024 | [38881794](https://pubmed.ncbi.nlm.nih.gov/38881794/) |  |
| 8 | 5783 | m.5783G\>A | [G5783A\-F8](https://mitofam.com/doc/544/) | China | Deafness | 6 | 4 | 2022 | [36039763](https://pubmed.ncbi.nlm.nih.gov/36039763/) |  |

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5783 | m.5783G\>A | G5783A\-F1 | G5783A\-F1\-I2 | uninf | F | N | N | A | 32 | 90% | / | / | 90%(BM),90%(H) | Healthy | Carrying T15458C,T15519C |
| 2 | 5783 | m.5783G\>A | G5783A\-F1 | G5783A\-F1\-II1 | fam | F | N | N | A | ND | 81% | / | / | 90%(BM),93%(H) | Healthy | Carrying T15458C,T15519C |
| 3 | 5783 | m.5783G\>A | G5783A\-F1 | G5783A\-F1\-II2 | fam | F | Y | Y | D | 8 | 100% | 100% | / | 100%(Kidney) | Myopathy, shortstature, deafness, renalfailure, cardiomyopathy, muscleweakness, hypotonia, developmentaldelay, renaltubularacidosis, lacticacidemia, sensorineuralhearingimpairment, poorappetite, hypertension, hyperparathyroidism, cardiacfailure | Carrying T15458C,T15519C |
| 4 | 5783 | m.5783G\>A | G5783A\-F2 | G5783A\-F2\-P7 | fam | ND | Y | Y | ND | 1\.8 | \+ | / | / | / | Mitochondrial cytopathy |  |
| 5 | 5783 | m.5783G\>A | G5783A\-F3 | G5783A\-F3\-P13 | fam | ND | Y | Y | ND | 7 | \+ | / | / | / | Mitochondrial cytopathy |  |
| 6 | 5783 | m.5783G\>A | G5783A\-F4 | G5783A\-F4\-P22 | fam | ND | Y | Y | ND | 7 | \+ | / | / | / | Leigh syndrome |  |
| 7 | 5783 | m.5783G\>A | G5783A\-F5 | G5783A\-F5\-II2 | uninf | M | Y | Y | A | 66 | Homo | / | / | / | Major depressive disorder |  |
| 8 | 5783 | m.5783G\>A | G5783A\-F6 | G5783A\-F6\-III5 | uninf | F | Y | Y | A | 16 | Homo | / | / | / | Major depressive disorder |  |
| 9 | 5783 | m.5783G\>A | G5783A\-F7 | G5783A\-F7\-II2 | uninf | F | Y | Y | A | 66 | 0% | / | 94\.15% | / | MELAS |  |
| 10 | 5783 | m.5783G\>A | G5783A\-F7 | G5783A\-F7\-III1 | fam | F | N | N | A | ND | 0% | / | / | / | Healthy |  |
| 11 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-I2 | uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 12 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II1 | fam | F | N | N | A | 61 | Homo | / | / | / | Healthy |  |
| 13 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II3 | fam | M | N | Y | A | 58 | Homo | / | / | / | Moderate hearing loss |  |
| 14 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II6 | fam | F | N | N | A | 51 | Homo | / | / | / | Healthy |  |
| 15 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-II8 | fam | F | N | Y | A | 47 | Homo | / | / | / | Moderate hearing loss |  |
| 16 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III1 | fam | M | N | Y | A | 36 | Homo | / | / | / | Severe hearing loss |  |
| 17 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III2 | fam | F | N | N | A | 32 | Homo | / | / | / | Healthy |  |
| 18 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III3 | fam | F | N | N | A | 29 | Homo | / | / | / | Healthy |  |
| 19 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III6 | fam | F | N | N | A | 30 | Homo | / | / | / | Healthy |  |
| 20 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III7 | fam | M | Y | Y | A | 26 | Homo | / | / | / | Severe hearing loss |  |
| 21 | 5783 | m.5783G\>A | G5783A\-F8 | G5783A\-F8\-III8 | fam | F | N | Y | A | 21 | Homo | / | / | / | Severe hearing loss |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).