A1640G

# **General Information**

| **Position** | **1640** | **Variant** | **m.1640A\>G** | **Locus** | **MT\-TV** | **RNA** | **tRNA Val** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 6\.70% | **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.1640A\>G** variant in MT\-TV has been reported in 1 pedigree. To date, 3 carriers have been reported. Homoplasmy was reported in 3/3 carriers (100%), and 3/3 carriers (100%) were affected. The main clinical manifestations among affected carriers included diabetes mellitus, MELAS, and sensorineural hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1640 | m.1640A\>G |[ A1640G\-F1](https://mitofam.com/doc/848/) | Tunisia | MELAS, diabetes | 2 | 2 | 2011 | [21447323](https://pubmed.ncbi.nlm.nih.gov/21447323/) |  |

# **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 | 1640 | m.1640A\>G | A1640G\-F1 | A1640G\-F1\-II1 | Fam | F | Y | Y | A | ND | Homo | / | / | / | MELAS |  |
| 2 | 1640 | m.1640A\>G | A1640G\-F1 | A1640G\-F1\-I2 | Uninf | F | N | Y | A | ND | Homo | / | / | / | Diabetes mellitus |  |
| 3 | 1640 | m.1640A\>G | A1640G\-F1 | A1640G\-F1\-II2 | Fam | F | N | Y | A | ND | Homo | / | / | / | Sensorineural hearing loss |  |

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