G9133A

# **General Information**

| **Position** | **9133** | **Variant** | **m.9133G\>A** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **E203K** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | VUS\+ | **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.9133G\>A** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 2 carriers have been reported. Reported mutation loads ranged from 100%, with a median of 100% overall; affected carriers showed mutation loads from 100%, with a median of 100%; unaffected carriers showed mutation loads from 100%, with a median of 100%. The main clinical manifestations among affected carriers included autism, congenital cataracts, epilepsy, and intellectual disability.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9133 | m.9133G\>A | [G9133A\-F1 ](https://mitofam.com/doc/1769/)| USA | Neurodevelopmental disease | 1 | 0 | 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 | 9133 | m.9133G\>A | G9133A\-F1 | G9133A\-F1\-II1 | Fam | ND | Y | Y | A | 13 | 100% | / | / | / | Autism; intellectual disability; epilepsy; congenital cataracts | Co\-carrier m.9058A\>G |
| 2 | 9133 | m.9133G\>A | G9133A\-F1 | G9133A\-F1\-I2 | Uninf | F | N | N | A | ND | 100% | / | / | / | Healthy |  |

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