A9155G

# **General Information**

| **Position** | **9155** | **Variant** | **m.9155A\>G** | **Locus** | **MT\-ATP6** | **Amino\-AcidChange** | **Q210R** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-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.9155A\>G** variant in MT\-ATP6 has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 28% to 64%, with a median of 55% overall; affected carriers showed mutation loads from 28% to 64%, with a median of 55%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (64%) than in blood (28%). The main clinical manifestations among affected carriers included FSGS, MIDD, deafness, diabetes, diarrhoea, fatigue, myopathy, and proteinuria.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9155 | m.9155A\>G | A9155G\-F1 | Netherlands | MIDD | 0 | 0 | 2016 | [27966441](https://pubmed.ncbi.nlm.nih.gov/27966441/) | Asymptomatic half\-sister tested negative and was not entered. |

# **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 | 9155 | m.9155A\>G | A9155G\-F1 | A9155G\-F1\-Proband | Fam | F | Y | Y | A | 28 | 28% | 64% | 55% | / | MIDD; diabetes; deafness; proteinuria/FSGS; diarrhoea; myopathy; fatigue |  |

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