A6307G

# **General Information**

| **Position** | **6307** | **Variant** | **m.6307A\>G** | **Locus** | **MT\-CO1** | **Amino\-AcidChange** | **N135S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | . | **Heteroplasmy** | \+ | **APOGEE2** | Likely\-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.6307A\>G** variant in MT\-CO1 has been reported in 6 pedigrees. To date, 6 carriers have been reported. Reported mutation loads ranged from 98%, with a median of 98% overall; affected carriers showed mutation loads from 98%, with a median of 98%. The main clinical manifestations among affected carriers included asthenozoospermia and male infertility.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6307 | m.6307A\>G | A6307G\-F1 | Tunisian | Asthenozoospermia; male infertility | ND | ND | 2013 | [23712756](https://pubmed.ncbi.nlm.nih.gov/23712756/) |  |
| 2 | 6307 | m.6307A\>G | A6307G\-F2 | Tunisian | Asthenozoospermia; male infertility | ND | ND | 2013 | [23712756](https://pubmed.ncbi.nlm.nih.gov/23712756/) |  |
| 3 | 6307 | m.6307A\>G | A6307G\-F3 | Tunisian | Asthenozoospermia; male infertility | ND | ND | 2013 | [23712756](https://pubmed.ncbi.nlm.nih.gov/23712756/) |  |
| 4 | 6307 | m.6307A\>G | A6307G\-F4 | Tunisian | Asthenozoospermia; male infertility | ND | ND | 2013 | [23712756](https://pubmed.ncbi.nlm.nih.gov/23712756/) |  |
| 5 | 6307 | m.6307A\>G | A6307G\-F5 | Tunisian | Asthenozoospermia; male infertility | ND | ND | 2013 | [23712756](https://pubmed.ncbi.nlm.nih.gov/23712756/) |  |
| 6 | 6307 | m.6307A\>G | A6307G\-F6 | Tunisian | Asthenozoospermia; male infertility | ND | ND | 2013 | [23712756](https://pubmed.ncbi.nlm.nih.gov/23712756/) |  |

# **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 | 6307 | m.6307A\>G | A6307G\-F1 | A6307G\-F1\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | 98%(Sperm) | Asthenozoospermia; male infertility |  |
| 2 | 6307 | m.6307A\>G | A6307G\-F2 | A6307G\-F2\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | 98%(Sperm) | Asthenozoospermia; male infertility |  |
| 3 | 6307 | m.6307A\>G | A6307G\-F3 | A6307G\-F3\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | 98%(Sperm) | Asthenozoospermia; male infertility |  |
| 4 | 6307 | m.6307A\>G | A6307G\-F4 | A6307G\-F4\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | 98%(Sperm) | Asthenozoospermia; male infertility |  |
| 5 | 6307 | m.6307A\>G | A6307G\-F5 | A6307G\-F5\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | 98%(Sperm) | Asthenozoospermia; male infertility |  |
| 6 | 6307 | m.6307A\>G | A6307G\-F6 | A6307G\-F6\-P1 | Uninf | M | Y | Y | ND | ND | / | / | / | 98%(Sperm) | Asthenozoospermia; male infertility |  |

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