A11519C

# **General Information**

| **Position** | **11519** | **Variant** | **m.11519A\>C** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **T254P** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **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.11519A\>C** variant in MT\-ND4 has been reported in 1 pedigree. To date, 1 carrier has been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included relapse\-remitting multiple sclerosis, blurry vision, imbalance, numbness, ocular movement pain, sensory ataxia, and weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11519 | m.11519A\>C | A11519C\-F1 | Saudi Arabia | Multiple sclerosis | ND | ND | 2019 | [31798871](https://pubmed.ncbi.nlm.nih.gov/31798871/) | Coexisting variant: A11523C |

# **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 | 11519 | m.11519A\>C | A11519C\-F1 | A11519C\-F1\-P1 | Uninf | F | Y | Y | ND | 31 | / | / | / | / | Relapse\-remitting multiple sclerosis; blurry vision, ocular movement pain, sensory ataxia, weakness, numbness, imbalance | Original carrier identifier: Patient 44 |

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