A3261G

# **General Information**

| **Position** | **3261** | **Variant** | **m.3261A\>G** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 27\.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.3261A\>G** variant in MT\-TL1 has been reported in 2 pedigrees. To date, 14 carriers have been reported. Homoplasmy was reported in 6/14 carriers (42\.9%), and 6/14 carriers (42\.9%) were affected. The main clinical manifestations among affected carriers included essential hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3261 | m.3261A\>G | [A3261G\-F1](https://mitofam.com/doc/2242/) | China | Essential hypertension | 4 | 3 | 2022 | [35657541](https://pubmed.ncbi.nlm.nih.gov/35657541/) |  |
| 2 | 3261 | m.3261A\>G | [A3261G\-F2](https://mitofam.com/doc/2243/) | China | Essential hypertension | 4 | 1 | 2022 | [35657541](https://pubmed.ncbi.nlm.nih.gov/35657541/) |  |

# **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 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 2 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 3 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II5 | Fam | M | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 5 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-II8 | Fam | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 6 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-III2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 8 | 3261 | m.3261A\>G | A3261G\-F1 | A3261G\-F1\-III3 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 9 | 3261 | m.3261A\>G | A3261G\-F2 | A3261G\-F2\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 10 | 3261 | m.3261A\>G | A3261G\-F2 | A3261G\-F2\-II2 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 11 | 3261 | m.3261A\>G | A3261G\-F2 | A3261G\-F2\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 12 | 3261 | m.3261A\>G | A3261G\-F2 | A3261G\-F2\-II5 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Essential hypertension |  |
| 13 | 3261 | m.3261A\>G | A3261G\-F2 | A3261G\-F2\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 14 | 3261 | m.3261A\>G | A3261G\-F2 | A3261G\-F2\-III2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |

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