A5816G

# **General Information**

| **Position** | **5816** | **Variant** | **m.5816A\>G** | **Locus** | **MT\-TC** | **RNA** | **tRNA Cys** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 59\.90% | **Pathogenicity** | Reported \[VUS] |

"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.5816A\>G** variant in MT\-TC has been reported in 2 pedigrees. To date, 19 carriers have been reported. Homoplasmy was reported in 4/19 carriers (21\.1%), and 8/19 carriers (42\.1%) were affected. The main clinical manifestations among affected carriers included epilepsy, hand tremors, fatigue, double eyelid blinking, generalized tonic\-clonic convulsions, nocturnal seizures, progressive dystonia, vomiting, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5816 | m.5816A\>G | [A5816G\-F1](https://mitofam.com/doc/534/) | UK | Mitochondrial dystonia | 10 | 3 | 2007 | [17724295](https://pubmed.ncbi.nlm.nih.gov/17724295/) |  |
| 2 | 5816 | m.5816A\>G | [A5816G\-F2](https://mitofam.com/doc/535/) | China | Mitochondrial dystonia | 1 | 3 | 2023 | [37771542](https://pubmed.ncbi.nlm.nih.gov/37771542/) |  |

# **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 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-I2 | uninf | F | N | N | D | 78 | / | / | / | / | Healthy |  |
| 2 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II1 | fam | M | N | Y | A | ND | / | Homo | / | / | Epilepsy, jerky dystonic movements, clawed hands, limited movement, pigmentary retinopathy |  |
| 3 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II2 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 4 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II3 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 5 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II4 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 6 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II5 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 7 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II6 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 8 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II7 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 9 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II8 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 10 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II9 | fam | M | N | N | D | ND | / | / | / | / | Healthy |  |
| 11 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II10 | fam | F | N | Y | D | 50 | / | Homo | / | / | Progressive dystonia, hemifacial spasm, bulbar dysfunction, bilateral ptosis |  |
| 12 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-II11 | fam | F | N | N | D | ND | / | / | / | / | Healthy |  |
| 13 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-III1 | fam | M | Y | Y | A | ND | / | Homo | / | / | Nocturnal seizures, tremor, weakness, jerky dystonia |  |
| 14 | 5816 | m.5816A\>G | A5816G\-F1 | A5816G\-F1\-III2 | fam | M | N | Y | A | ND | Homo | / | / | / | Generalized tonic\-clonic convulsions, photosensitive migraine, postural tremor, fatigue, intermittent dystonia, shortness of breath, mild bilateral ptosis, optic atrophy, jerky ocular pursuit movements, pes planus |  |
| 15 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-II2 | fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 16 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-II3 | fam | M | N | Y | A | ND | / | / | / | / | ND |  |
| 17 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-II4 | fam | F | N | Y | A | ND | \+ | / | \+ | / | Hand tremors |  |
| 18 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-III2 | fam | F | N | Y | A | ND | \+ | / | \+ | / | Double eyelid blinking, epilepsy |  |
| 19 | 5816 | m.5816A\>G | A5816G\-F2 | A5816G\-F2\-IV1 | fam | F | Y | Y | D | 3 | \+ | / | \+ | / | Vomiting, decreased consciousness, mouth twitching, limb shaking, salivation, speechlessness, fatigue, social withdrawal, slurred speech, choking, poor sleep, night crying, unsteady walking, easy falling, delirium, poor mental responsiveness, limited eye abduction, irritability, agitation, hand tremors, seizures, gaze deviation, cyanosis |  |

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