A12280G

# **General Information**

| **Position** | **12280** | **Variant** | **m.12280A\>G** | **Locus** | **MT\-TL2** | **RNA** | **tRNA Leu (CUN)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 6\.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.12280A\>G** variant in MT\-TL2 has been reported in 1 pedigree. To date, 7 carriers have been reported. Homoplasmy was reported in 7/7 carriers (100%), and 5/7 carriers (71\.4%) were affected. The main clinical manifestations among affected carriers included hypertension.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 12280 | m.12280A\>G | [A12280G\-F1](https://mitofam.com/doc/802/) | China | Hypertension | 2 | 4 | 2019 | [30783460](https://pubmed.ncbi.nlm.nih.gov/30783460/) | Carrying T5587C |

# **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 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-I2 | Uninf | F | N | Y | A | 66 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 2 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-II1 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T5587C |
| 3 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-II4 | Fam | F | Y | Y | A | 45 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 4 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-II6 | Fam | F | N | Y | A | 42 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 5 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-III4 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T5587C |
| 6 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-III5 | Fam | F | N | Y | A | 34 | Homo | / | / | / | Hypertension | Carrying T5587C |
| 7 | 12280 | m.12280A\>G | A12280G\-F1 | A12280G\-F1\-III6 | Fam | F | N | Y | A | 30 | Homo | / | / | / | Hypertension | Carrying T5587C |

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