A4833G

# **General Information**

| **Position** | **4833** | **Variant** | **m.4833A\>G** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **T122A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.4833A\>G** variant in MT\-ND2 has been reported in 1 pedigree. To date, 6 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included type 2 diabetes mellitus and impaired glucose tolerance.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4833 | m.4833A\>G | [A4833G\-F1](https://mitofam.com/doc/1182/) | Japan | Type 2 diabetes mellitus | 2 | 3 | 2000 | [11095989](https://pubmed.ncbi.nlm.nih.gov/11095989/) |  |

# **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 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-II1 | Fam | F | N | Y | A | 60y | / | / | / | / | Impaired glucose tolerance |  |
| 2 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-II2 | Fam | M | N | Y | A | 64y | / | / | / | / | Type 2 diabetes mellitus |  |
| 3 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-II3 | Fam | F | N | Y | A | 66y | / | / | / | / | Type 2 diabetes mellitus |  |
| 4 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-III1 | Fam | F | Y | Y | A | 44y | / | / | / | Positive(F,BM) | Type 2 diabetes mellitus |  |
| 5 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-III2 | Fam | F | N | N | A | 42y | / | / | / | / | Healthy |  |
| 6 | 4833 | m.4833A\>G | A4833G\-F1 | A4833G\-F1\-III3 | Fam | F | N | N | A | 40y | / | / | / | / | Healthy |  |

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