A1636G

# **General Information**

| **Position** | **1636** | **Variant** | **m.1636A\>G** | **Locus** | **MT\-TV** | **RNA** | **tRNA Val** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 30\.50% | **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.1636A\>G** variant in MT\-TV has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 17% to 21%, with a median of 19% overall; affected carriers showed mutation loads from 17% to 21%, with a median of 19%. The main clinical manifestations among affected carriers included charcot\-Marie\-Tooth disease, global developmental delay, brain atrophy, paroxysmal arrhythmia, and progressive myoclonic epilepsy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1636 | m.1636A\>G | A1636G\-F1 | China | Global developmental delay, Charcot\-Marie\-Tooth disease, progressive myoclonic epilepsy, paroxysmal arrhythmia, brain atrophy | ND | ND | 2024 | [39243325](https://pubmed.ncbi.nlm.nih.gov/39243325/) |  |

# **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 | 1636 | m.1636A\>G | A1636G\-F1 | A1636G\-F1\-Ⅱ\-2 | De novo | M | Y | Y | A | 2 | 17% | / | 19% | 21%(BM) | Global developmental delay, Charcot\-Marie\-Tooth disease, progressive myoclonic epilepsy, paroxysmal arrhythmia, brain atrophy |  |

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