G5460T

# **General Information**

| **Position** | **5460** | **Variant** | **m.5460G\>T** | **Locus** | **MT\-ND2** | **Amino\-AcidChange** | **A331S** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **APOGEE2** | VUS\+ | **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.5460G\>T** variant in MT\-ND2 has been reported in 7 pedigrees. To date, 7 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included alzheimer disease.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5460 | m.5460G\>T | G5460T\-F1 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |
| 2 | 5460 | m.5460G\>T | G5460T\-F2 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |
| 3 | 5460 | m.5460G\>T | G5460T\-F3 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |
| 4 | 5460 | m.5460G\>T | G5460T\-F4 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |
| 5 | 5460 | m.5460G\>T | G5460T\-F5 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |
| 6 | 5460 | m.5460G\>T | G5460T\-F6 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |
| 7 | 5460 | m.5460G\>T | G5460T\-F7 | United States | Alzheimer disease | ND | ND | 1992 | [1370613](https://pubmed.ncbi.nlm.nih.gov/1370613/) |  |

# **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 | 5460 | m.5460G\>T | G5460T\-F1 | G5460T\-F1\-P1 | Uninf | ND | Y | Y | D | 70y | / | / | / | / | Alzheimer disease |  |
| 2 | 5460 | m.5460G\>T | G5460T\-F2 | G5460T\-F2\-P1 | Uninf | ND | Y | Y | D | 86y | / | / | / | / | Alzheimer disease |  |
| 3 | 5460 | m.5460G\>T | G5460T\-F3 | G5460T\-F3\-P1 | Uninf | ND | Y | Y | D | 76y | / | / | / | / | Alzheimer disease |  |
| 4 | 5460 | m.5460G\>T | G5460T\-F4 | G5460T\-F4\-P1 | Uninf | ND | Y | Y | D | 84y | / | / | / | / | Alzheimer disease |  |
| 5 | 5460 | m.5460G\>T | G5460T\-F5 | G5460T\-F5\-P1 | Uninf | ND | Y | Y | D | 85y | / | / | / | / | Alzheimer disease |  |
| 6 | 5460 | m.5460G\>T | G5460T\-F6 | G5460T\-F6\-P1 | Uninf | ND | Y | Y | D | 68y | / | / | / | / | Alzheimer disease |  |
| 7 | 5460 | m.5460G\>T | G5460T\-F7 | G5460T\-F7\-P1 | Uninf | ND | Y | Y | D | 70y | / | / | / | / | Alzheimer disease |  |

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