A3236G

# **General Information**

| **Position** | **3236** | **Variant** | **m.3236A\>G** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **mitoTIP** | 37\.80% | **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.3236A\>G** variant in MT\-TL1 has been reported in 2 pedigrees. To date, 16 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3236 | m.3236A\>G | [A3236G\-F1](https://mitofam.com/doc/2225/) | China | Hearing loss | 11 | 3 | 2020 | [32169613](https://pubmed.ncbi.nlm.nih.gov/32169613/) | Carrying G15927A |
| 2 | 3236 | m.3236A\>G | A3236G\-F2 | China | Hearing loss | ND | ND | 2020 | [32169613](https://pubmed.ncbi.nlm.nih.gov/32169613/) |  |

# **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 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-II2 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 3 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-II5 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 5 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-II8 | Fam | F | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 6 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-II10 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 9 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III14 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 10 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III15 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III17 | Fam | M | Y | Y | A | 3 | / | / | / | / | Hearing loss | Carrying G15927A |
| 12 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III19 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 13 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-III20 | Fam | M | N | Y | A | ND | / | / | / | / | Hearing loss |  |
| 14 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-IV1 | Fam | ND | N | N | A | ND | / | / | / | / | Healthy |  |
| 15 | 3236 | m.3236A\>G | A3236G\-F1 | A3236G\-F1\-IV11 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 16 | 3236 | m.3236A\>G | A3236G\-F2 | A3236G\-F2\-I1 | De novo | M | Y | Y | A | 2 | / | / | / | / | Hearing loss |  |

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