T9088C

# **General Information**

| **Position** | **9088** | **Variant** | **m.9088T\>C** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **S188P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported by paper as Likely Benign |

"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.9088T\>C** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 33% to 66%, with a median of 52% overall; affected carriers showed mutation loads from 33% to 66%, with a median of 52%. The main clinical manifestations among affected carriers included fatigue, myalgias, depression, unilateral facial weakness, frequent choking, heat intolerance, hypotension, irritable bowel, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9088 | m.9088T\>C |[ T9088C\-F1](https://mitofam.com/doc/1796/) | USA | Dysautonomia/myalgia phenotype | 0 | 1 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) |  |

# **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 | 9088 | m.9088T\>C | T9088C\-F1 | T9088C\-F1\-II1 | Fam | ND | Y | Y | A | 15 | 66% | / | / | 52%(skin) | Unilateral facial weakness; postural orthostatic tachycardia; myalgias; heat intolerance; fatigue; migraines |  |
| 2 | 9088 | m.9088T\>C | T9088C\-F1 | T9088C\-F1\-I2 | Uninf | F | N | Y | A | 37 | 33% | / | / | / | Depression; hypotension; fatigue; myalgias; irritable bowel; frequent choking |  |

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