G9553A

# **General Information**

| **Position** | **9553** | **Variant** | **m.9553G\>A** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **W116Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **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.9553G\>A** variant in MT\-CO3 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 0% to 89%, with a median of 13% overall; affected carriers showed mutation loads from 0% to 89%, with a median of 13%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (89%). The main clinical manifestations among affected carriers included cOX deficiency, MELAS, blurred vision, hearing impairment, ragged\-red fibers, seizures, speech difficulty, and stroke\-like lesions.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9553 | m.9553G\>A | G9553A\-F1 | China | MELAS | 2 | 0 | 2021 | [33863631](https://pubmed.ncbi.nlm.nih.gov/33863631/) |  |

# **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 | 9553 | m.9553G\>A | G9553A\-F1 | G9553A\-F1\-II2 | De novo | F | Y | Y | ND | 47 | 0% | 89% | / | 13%(BM) | MELAS; seizures; speech difficulty; hearing impairment; blurred vision; stroke\-like lesions; ragged\-red fibers; COX deficiency |  |

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