G5913A

# **General Information**

| **Position** | **5913** | **Variant** | **m.5913G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **D4N** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **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.5913G\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 4 carriers have been reported. Homoplasmy was reported in 4/4 carriers (100%), and 3/4 carriers (75%) were affected. The main clinical manifestations among affected carriers included MIDD, deafness, high blood pressure, and nephropathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5913 | m.5913G\>A | G5913A\-F1 | Tunisia | MIDD, deafness, high blood pressure, nephropathy | 1 | 3 | 2015 | [25701779](https://pubmed.ncbi.nlm.nih.gov/25701779/) | Carrying G9267C |

# **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 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-I1 | Uninf | F | ND | Y | ND | 57 | Homo | / | / | / | MIDD, deafness, high blood pressure | Carrying G9267C |
| 2 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-II1 | Fam | F | ND | Y | ND | 21 | Homo | / | / | / | MIDD, deafness, high blood pressure | Carrying G9267C |
| 3 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-II3 | Fam | F | ND | Y | ND | 27 | Homo | / | / | / | MIDD, deafness, high blood pressure, nephropathy | Carrying G9267C |
| 4 | 5913 | m.5913G\>A | G5913A\-F1 | G5913A\-F1\-III1 | Fam | M | ND | N | ND | 2 | Homo | / | / | / | Healthy |  |

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