G6480A

# **General Information**

| **Position** | **6480** | **Variant** | **m.6480G\>A** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **V193I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.6480G\>A** variant in MT\-CO1 has been reported in 1 pedigree. To date, 29 carriers have been reported. Homoplasmy was reported in 1/29 carriers (3\.4%), and 19/29 carriers (65\.5%) were affected. The main clinical manifestations among affected carriers included LHON, visual impairment, and bilateral visual impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6480 | m.6480G\>A | [G6480A\-F1](https://mitofam.com/doc/905/) | Chinese | Leber hereditary optic neuropathy | 10 | 18 | 2008 | [19022198](https://pubmed.ncbi.nlm.nih.gov/19022198/) | Carrying G11778A, T12811C, A15395G |

# **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 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-I\-2 | Uninf | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 2 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-II\-2 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 3 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-II\-3 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 4 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-II\-5 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 5 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-1 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 6 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-2 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 7 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-4 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 8 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-5 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 9 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-6 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy |  |
| 10 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-7 | Fam | M | N | N | ND | ND | / | / | / | / | Healthy |  |
| 11 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-9 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 12 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-10 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 13 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-12 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 14 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-14 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 15 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-15 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 16 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-III\-17 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 17 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 18 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-2 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 19 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-3 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 20 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-4 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 21 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-5 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 22 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-6 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 23 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-7 | Fam | M | Y | Y | ND | 28 | Homo | / | / | / | LHON; bilateral visual impairment | Carrying G11778A, T12811C, A15395G |
| 24 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-9 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |
| 25 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-10 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 26 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-11 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 27 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-12 | Fam | F | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 28 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-IV\-13 | Fam | M | N | Y | ND | ND | / | / | / | / | LHON; visual impairment |  |
| 29 | 6480 | m.6480G\>A | G6480A\-F1 | G6480A\-F1\-V\-1 | Fam | F | N | N | ND | ND | / | / | / | / | Healthy |  |

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