G3316A

# **General Information**

| **Position** | **3316** | **Variant** | **m.3316G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **A4T** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **Pathogenicity** | Reported; hg D1 D2 M33 R30 marker |

"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.3316G\>A** variant in MT\-ND1 has been reported in 3 pedigrees. To date, 3 carriers have 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 | 3316 | m.3316G\>A | G3316A\-F1 | India | LHON | 0 | 0 | 2022 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Haplogroup\-specific secondary LHON\-associated variant; p.A4T. |
| 2 | 3316 | m.3316G\>A | G3316A\-F2 | India | LHON | 0 | 0 | 2022 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Haplogroup\-specific secondary LHON\-associated variant; p.A4T. |
| 3 | 3316 | m.3316G\>A | G3316A\-F3 | India | LHON | 0 | 0 | 2022 | [34573281](https://pubmed.ncbi.nlm.nih.gov/34573281/) | Haplogroup\-specific secondary LHON\-associated variant; p.A4T. |

# **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 | 3316 | m.3316G\>A | G3316A\-F1 | G3316A\-F1\-I1 | Uninf | M | Y | Y | A | 17 | Positive | / | / | / | LHON | Haplogroup\-specific secondary LHON\-associated variant; p.A4T. |
| 2 | 3316 | m.3316G\>A | G3316A\-F2 | G3316A\-F2\-I1 | Uninf | M | Y | Y | A | 30 | Positive | / | / | / | LHON | Haplogroup\-specific secondary LHON\-associated variant; p.A4T. |
| 3 | 3316 | m.3316G\>A | G3316A\-F3 | G3316A\-F3\-I1 | Uninf | M | Y | Y | A | 8 | Positive | / | / | / | LHON | Haplogroup\-specific secondary LHON\-associated variant; p.A4T. |

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