G625A

# **General Information**

| **Position** | **625** | **Variant** | **m.625G\>A** | **Locus** | **MT\-TF** | **RNA** | **tRNA Phe** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 81\.30% | **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.625G\>A** variant in MT\-TF has been reported in 4 pedigrees. To date, 19 carriers have been reported. Homoplasmy was reported in 18/19 carriers (94\.7%), and 9/19 carriers (47\.4%) were affected. The main clinical manifestations among affected carriers included cholecystolithiasis and epilepsy and progressive hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 625 | m.625G\>A | G625A\-F1 | Japan | Sensorineural hearing loss, epilepsy | 0 | 0 | 2011 | 21914246 | Carrying m.5231G\>A |
| 2 | 625 | m.625G\>A | G625A\-F2 | China | Cholecystolithiasis | 1 | 2 | 2022 | 35719381 | Carrying 70\+ mutations |
| 3 | 625 | m.625G\>A | G625A\-F3 | China | Cholecystolithiasis | 6 | 2 | 2022 | 35719381 |  |
| 4 | 625 | m.625G\>A | G625A\-F4 | China | Cholecystolithiasis | 3 | 1 | 2022 | 35719381 |  |

# **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 | 625 | m.625G\>A | G625A\-F1 | G625A\-F1\-P1 | Uninf | F | Y | Y | A | 11 | 70% | 80% | / | 80% (F) | Epilepsy and progressive hearing loss | Carrying m.5231G\>A |
| 2 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-I2 | Uninf | F | N | Y | A | 60 | Homo | / | / | / | Cholecystolithiasis | Carrying 70\+ mutations |
| 3 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-II1 | Fam | M | N | Y | A | 41 | Homo | / | / | / | Cholecystolithiasis |  |
| 4 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-II4 | Fam | F | Y | Y | A | 38 | Homo | / | / | / | Cholecystolithiasis |  |
| 5 | 625 | m.625G\>A | G625A\-F2 | G625A\-F2\-III3 | Fam | M | N | N | A | 14 | Homo | / | / | / | Healthy |  |
| 6 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-I2 | Uninf | F | N | Y | A | 65 | Homo | / | / | / | Cholecystolithiasis |  |
| 7 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-II2 | Fam | F | N | Y | A | 43 | Homo | / | / | / | Cholecystolithiasis |  |
| 8 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-II4 | Fam | F | Y | Y | A | 42 | Homo | / | / | / | Cholecystolithiasis |  |
| 9 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-II6 | Fam | F | N | N | A | 38 | Homo | / | / | / | Healthy |  |
| 10 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-III1 | Fam | M | N | N | A | 21 | Homo | / | / | / | Healthy |  |
| 11 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-III2 | Fam | M | N | N | A | 19 | Homo | / | / | / | Healthy |  |
| 12 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-III3 | Fam | M | N | N | A | 21 | Homo | / | / | / | Healthy |  |
| 13 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-III4 | Fam | M | N | N | A | 16 | Homo | / | / | / | Healthy |  |
| 14 | 625 | m.625G\>A | G625A\-F3 | G625A\-F3\-III5 | Fam | F | N | N | A | 6 | Homo | / | / | / | Healthy |  |
| 15 | 625 | m.625G\>A | G625A\-F4 | G625A\-F4\-I2 | Uninf | F | N | Y | A | 66 | Homo | / | / | / | Cholecystolithiasis |  |
| 16 | 625 | m.625G\>A | G625A\-F4 | G625A\-F4\-II1 | Fam | M | N | N | A | 46 | Homo | / | / | / | Healthy |  |
| 17 | 625 | m.625G\>A | G625A\-F4 | G625A\-F4\-II2 | Fam | M | N | N | A | 44 | Homo | / | / | / | Healthy |  |
| 18 | 625 | m.625G\>A | G625A\-F4 | G625A\-F4\-II5 | Fam | F | Y | Y | A | 43 | Homo | / | / | / | Cholecystolithiasis |  |
| 19 | 625 | m.625G\>A | G625A\-F4 | G625A\-F4\-III2 | Fam | M | N | N | A | 20 | Homo | / | / | / | Healthy |  |

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