G5650A

# **General Information**

| **Position** | **5650** | **Variant** | **m.5650G\>A** | **Locus** | **MT\-TA** | **RNA** | **tRNA Ala** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.5650G\>A** variant in MT\-TA has been reported in 2 pedigrees. To date, 5 carriers have been reported. Reported mutation loads ranged from 0% to 99%, with a median of 95% overall; affected carriers showed mutation loads from 2% to 99%, with a median of 95%; unaffected carriers showed mutation loads from 0%, with a median of 0%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in blood (95%), muscle (95%), urine (95%), and buccal epithelial cells (95%) than in hair (10%). The main clinical manifestations among affected carriers included cADASIL with migraine aura, endured increasing difficulty with inclines and stairs, myopathy with ragged\-red fibers, some progressive difficulty in rising from a squat, and variable symptoms of fatigue.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5650 | m.5650G\>A | G5650A\-F1 | Finland | Myopathy and CADASIL | ND | ND | 2001 | [11715067](https://pubmed.ncbi.nlm.nih.gov/11715067/) |  |
| 2 | 5650 | m.5650G\>A |[ G5650A\-F2 ](https://mitofam.com/doc/794/)| UK | Myopathy | ND | 2 | 2008 | [17825557](https://pubmed.ncbi.nlm.nih.gov/17825557/) |  |

# **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 | 5650 | m.5650G\>A | G5650A\-F1 | G5650A\-F1\-P1 | De novo | M | Y | Y | A | 53 | 65% | 99% | / | 96% (Buccal epithelium); 95% (Skin) | Myopathy with ragged\-red fibers; CADASIL with migraine aura |  |
| 2 | 5650 | m.5650G\>A | G5650A\-F1 | G5650A\-F1\-P2 | Uninf | M | N | N | A | 60 | 0 | / | / | / | CADASIL/migraine; 5650G\>A not detected in blood |  |
| 3 | 5650 | m.5650G\>A | G5650A\-F2 | G5650A\-F2\-P1 | Fam | F | Y | Y | A | 11 | \>95% | \>95% | \>95% | \>95% (Buccal epithelial cells); 10% (H) | Endured increasing difficulty with inclines and stairs |  |
| 4 | 5650 | m.5650G\>A | G5650A\-F2 | G5650A\-F2\-P2 | Fam | F | N | Y | A | 42 | \>96% | \>96% | \>96% | / | Variable symptoms of fatigue |  |
| 5 | 5650 | m.5650G\>A | G5650A\-F2 | G5650A\-F2\-P3 | Uninf | F | N | Y | A | 63 | / | / | 2% | / | Some progressive difficulty in rising from a squat |  |

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