G9544A

# **General Information**

| **Position** | **9544** | **Variant** | **m.9544G\>A** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **G113E** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-pathogenic | **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.9544G\>A** variant in MT\-CO3 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Homoplasmy was reported in 1/2 carriers (50%), and 2/2 carriers (100%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (55%), bone marrow (6%), fibroblasts (25%), other tissue (97%), other tissue (54%), and cox\-positive fibers (8%) than in cox\-negative fibers (1%). The main clinical manifestations among affected carriers included 200 OU, cK up to 15000 U, L, lifelong bilateral optic neuropathy, MRI, recurrent exertional rhabdomyolysis, VA 20, chiasm on CT, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9544 | m.9544G\>A | G9544A\-F1 | Saudi Arabia | Sporadic bilateral optic neuropathy | ND | ND | 2008 | [18676632](https://pubmed.ncbi.nlm.nih.gov/18676632/) |  |
| 2 | 9544 | m.9544G\>A | G9544A\-F2 | USA | Recurrent rhabdomyolysis / metabolic myopathy | ND | ND | 2026 | [41679129](https://pubmed.ncbi.nlm.nih.gov/41679129/) |  |

# **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 | 9544 | m.9544G\>A | G9544A\-F1 | G9544A\-F1\-P1 | Uninf | M | Y | Y | A | 10 | Homo | / | / | / | Lifelong bilateral optic neuropathy; VA 20/200 OU; wedge\-shaped temporal pallor with large cups; modest horizontal pendular nystagmus; normal optic nerves/chiasm on CT/MRI |  |
| 2 | 9544 | m.9544G\>A | G9544A\-F2 | G9544A\-F2\-P1 | Uninf | F | Y | Y | A | 41 | / | 55% | / | 6%(BM); 25%(F); 97\+/\-1%(COX\-negative fibers); 54\+/\-8%(COX\-positive fibers) | Recurrent exertional rhabdomyolysis, episodic myalgia, CK up to 15000 U/L, gait impairment during attacks, normal strength between attacks |  |

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