A11467G

# **General Information**

| **Position** | **11467** | **Variant** | **m.11467A\>G** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **L236L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **Pathogenicity** | Reported \[B] |

"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.11467A\>G** variant in MT\-ND4 has been reported in 2 pedigrees. To date, 7 carriers have been reported. Homoplasmy was reported in 7/7 carriers (100%), and 4/7 carriers (57\.1%) were affected. The main clinical manifestations among affected carriers included LHON, subclinical LHON, and symptomatic LHON.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11467 | m.11467A\>G | [A11467G\-F1](https://mitofam.com/doc/1865/) | Serbia | LHON | 1 | 2 | 2020 | [31743754](https://pubmed.ncbi.nlm.nih.gov/31743754/) | Family \#1; Coexisting variant: coexisting primary m.11778G\>A |
| 2 | 11467 | m.11467A\>G | [A11467G\-F2](https://mitofam.com/doc/1867/) | Serbia | LHON | 2 | 0 | 2020 | [31743754](https://pubmed.ncbi.nlm.nih.gov/31743754/) | Family \#3; Coexisting variant: coexisting primary m.3460G\>A |

# **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 | 11467 | m.11467A\>G | A11467G\-F1 | A11467G\-F1\-III1 | Fam | M | N | Y | ND | ND | Homo | / | / | / | Symptomatic LHON |  |
| 2 | 11467 | m.11467A\>G | A11467G\-F1 | A11467G\-F1\-III2 | Fam | F | N | Y | ND | ND | Homo | / | / | / | Subclinical LHON |  |
| 3 | 11467 | m.11467A\>G | A11467G\-F1 | A11467G\-F1\-IV1 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 4 | 11467 | m.11467A\>G | A11467G\-F1 | A11467G\-F1\-IV2 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON | Coexisting variant: G11778A |
| 5 | 11467 | m.11467A\>G | A11467G\-F2 | A11467G\-F2\-III1 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 6 | 11467 | m.11467A\>G | A11467G\-F2 | A11467G\-F2\-IV1 | Fam | F | N | N | ND | ND | Homo | / | / | / | Healthy |  |
| 7 | 11467 | m.11467A\>G | A11467G\-F2 | A11467G\-F2\-IV2 | Fam | M | Y | Y | ND | ND | Homo | / | / | / | LHON | Coexisting variant: G3460A |

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