G15950A

# **General Information**

| **Position** | **15950** | **Variant** | **m.15950G\>A** | **Locus** | **MT\-TT** | **RNA** | **tRNA Thr** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 54\.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.15950G\>A** variant in MT\-TT has been reported in 2 pedigrees. To date, 5 carriers have been reported. Homoplasmy was reported in 5/5 carriers (100%), and 2/5 carriers (40%) were affected. The main clinical manifestations among affected carriers included LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15950 | m.15950G\>A | [G15950A\-F1](https://mitofam.com/doc/840/) | Spain | LHON | 1 | 0 | 2022 | [35808913](https://pubmed.ncbi.nlm.nih.gov/35808913/) | Carrying A14053G |
| 2 | 15950 | m.15950G\>A |[ G15950A\-F2](https://mitofam.com/doc/841/) | Spain | LHON | 2 | 0 | 2022 | [35808913](https://pubmed.ncbi.nlm.nih.gov/35808913/) | Carrying A4435G |

# **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 | 15950 | m.15950G\>A | G15950A\-F1 | G15950A\-F1\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 15950 | m.15950G\>A | G15950A\-F1 | G15950A\-F1\-II1 | Fam | F | Y | Y | A | ND | Homo | / | / | / | LHON | Carrying A14053G |
| 3 | 15950 | m.15950G\>A | G15950A\-F2 | G15950A\-F2\-II1 | Fam | M | Y | Y | A | ND | Homo | / | / | / | LHON | Carrying A4435G |
| 4 | 15950 | m.15950G\>A | G15950A\-F2 | G15950A\-F2\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 5 | 15950 | m.15950G\>A | G15950A\-F2 | G15950A\-F2\-II3 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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