G3421A

# **General Information**

| **Position** | **3421** | **Variant** | **m.3421G\>A** | **Locus** | **MT\-ND1** | **Amino\-AcidChange** | **V39I** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.3421G\>A** variant in MT\-ND1 has been reported in 1 pedigree. To date, 13 carriers have been reported. Homoplasmy was reported in 13/13 carriers (100%), and 7/13 carriers (53\.8%) were affected. The main clinical manifestations among affected carriers included diabetes and deafness, IGT, diabetes, barylalia, deafness, and poor coordination.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3421 | m.3421G\>A | [G3421A\-F1](https://mitofam.com/doc/1412/) | China | Maternally inherited diabetes and deafness / IGT | 6 | 7 | 2006 | [16949108](https://pubmed.ncbi.nlm.nih.gov/16949108/) | Carrying T11794C (synonymous). |

# **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 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-II1 | Fam | M | N | Y | A | 46 | Homo | / | / | / | Diabetes and deafness |  |
| 2 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-II3 | Fam | F | N | Y | A | 50 | Homo | / | / | / | Diabetes and deafness |  |
| 3 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-II5 | Fam | F | Y | Y | A | 52 | Homo | / | / | / | Diabetes, deafness, barylalia, poor coordination | A3243G negative. |
| 4 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-II7 | Fam | F | N | Y | A | 58 | Homo | / | / | / | Diabetes and deafness |  |
| 5 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III2 | Fam | F | N | N | A | 22 | Homo | / | / | / | Healthy | Fig.1 filled symbol and Fig.2 chromatogram support mutation\-positive; Fig.2 caption appears to omit III9\. |
| 6 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III3 | Fam | M | N | N | A | 24 | Homo | / | / | / | Healthy |  |
| 7 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III5 | Fam | M | N | N | A | 28 | Homo | / | / | / | Healthy |  |
| 8 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III6 | Fam | M | N | N | A | 31 | Homo | / | / | / | Healthy |  |
| 9 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III7 | Fam | M | N | N | A | 33 | Homo | / | / | / | Healthy |  |
| 10 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III9 | Fam | M | N | N | A | 28 | Homo | / | / | / | Healthy |  |
| 11 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III11 | Fam | M | N | Y | A | 33 | Homo | / | / | / | IGT |  |
| 12 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III13 | Fam | M | N | Y | A | 36 | Homo | / | / | / | IGT |  |
| 13 | 3421 | m.3421G\>A | G3421A\-F1 | G3421A\-F1\-III15 | Fam | M | N | Y | A | 39 | Homo | / | / | / | Diabetes and deafness |  |

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