G1642A

# **General Information**

| **Position** | **1642** | **Variant** | **m.1642G\>A** | **Locus** | **MT\-TV** | **RNA** | **tRNA Val** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 74\.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.1642G\>A** variant in MT\-TV has been reported in 2 pedigrees. To date, 2 carriers have been reported. Reported mutation loads ranged from 54% to 94%, with a median of 70% overall; affected carriers showed mutation loads from 54% to 94%, with a median of 70%. The main clinical manifestations among affected carriers included MELAS.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1642 | m.1642G\>A | G1642A\-F1 | UK | MELAS | ND | ND | 1996 | [8797538](https://pubmed.ncbi.nlm.nih.gov/8797538/) |  |
| 2 | 1642 | m.1642G\>A | G1642A\-F2 | Netherlands | MELAS | 1 | 0 | 1998 | [9443499](https://pubmed.ncbi.nlm.nih.gov/9443499/) |  |

# **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 | 1642 | m.1642G\>A | G1642A\-F1 | G1642A\-F1\-Ⅱ\-1 | Fam | M | Y | Y | A | 9 | 54% | 94% | / | / | MELAS |  |
| 2 | 1642 | m.1642G\>A | G1642A\-F2 | G1642A\-F2\-Ⅱ\-1 | De novo | M | Y | Y | D | 10 | 60% | 80% | / | / | MELAS |  |

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