G13204A

# **General Information**

| **Position** | **13204** | **Variant** | **m.13204G\>A** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **V290I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.13204G\>A** variant in MT\-ND5 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 type 2 diabetes, cataract, coordination, deafness, gangrene, severe peripheral neuropathy with loss of balance, and toe amputation.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13204 | m.13204G\>A | G13204A\-F1 | India | Type 2 diabetes with peripheral neuropathy | 0 | 0 | 2014 | [24456990](https://pubmed.ncbi.nlm.nih.gov/24456990/) | Proband; Case report.; India; Coimbatore/Hyderabad institutions and Indian patient context. |

# **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 | 13204 | m.13204G\>A | G13204A\-F1 | G13204A\-F1\-P1 | Uninf | F | Y | Y | A | 62 y; diabetes onset 44 y | / | / | / | Positive(ND) | Type 2 diabetes, deafness, severe peripheral neuropathy with loss of balance/coordination, cataract, gangrene/toe amputation | Sample type and heteroplasmy not explicitly reported in accessible text.; Case report and Fig. 1\.; Source: Proband |

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