A4136G

# **General Information**

| **Position** | **4136** | **Variant** | **m.4136A\>G** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **Y277C** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Reported \- possibly synergistic |

"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.4136A\>G** variant in MT\-ND1 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 LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4136 | m.4136A\>G | A4136G\-F1 | India | LHON | 0 | 0 | 2022 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Haplogroup M35a1; p.Y277C; conservation 97\.78\. |

# **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 | 4136 | m.4136A\>G | A4136G\-F1 | A4136G\-F1\-I1 | Uninf | M | Y | Y | A | 19 | Positive | / | / | / | LHON | Haplogroup M35a1; p.Y277C; conservation 97\.78\. |

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