T5587C

# **General Information**

| **Position** | **5587** | **Variant** | **m.5587T\>C** | **Locus** | **MT\-TA** | **RNA** | **tRNA Ala** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 12\.10% | **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.5587T\>C** variant in MT\-TA has been reported in 5 pedigrees. To date, 5 carriers have been reported. Homoplasmy was reported in 4/5 carriers (80%), and 5/5 carriers (100%) were affected. The main clinical manifestations among affected carriers included bilateral visual loss, grade 1 hypertension, T2DM, bilateral hearing impairment, color differentiation difficulty, and severe visual impairment.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5587 | m.5587T\>C | T5587C\-F1 | China | Maternally inherited nonsyndromic hearing loss | 2 | 6 | 2010 | [20153673](https://pubmed.ncbi.nlm.nih.gov/20153673/) | Carrying T7505C |
| 2 | 5587 | m.5587T\>C | T5587C\-F2 | China | LHON | 6 | 2 | 2017 | [28990081](https://pubmed.ncbi.nlm.nih.gov/28990081/) |  |
| 3 | 5587 | m.5587T\>C | T5587C\-F3 | China | LHON | 6 | 0 | 2017 | [28990081](https://pubmed.ncbi.nlm.nih.gov/28990081/) |  |
| 4 | 5587 | m.5587T\>C | T5587C\-F4 | China | Maternally inherited hypertension | 2 | 4 | 2019 | [30783460](https://pubmed.ncbi.nlm.nih.gov/30783460/) | Carrying A12280G |
| 5 | 5587 | m.5587T\>C | T5587C\-F5 | China | T2DM | 3 | 3 | 2022 | [34993838](https://pubmed.ncbi.nlm.nih.gov/34993838/) | Carrying T12338C |

# **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 | 5587 | m.5587T\>C | T5587C\-F1 | T5587C\-F1\-III1 | Fam | M | Y | Y | A | 16 | Homo | / | / | Homo (lymphoblastoid cell lines) | bilateral hearing impairment | Carrying T7505C |
| 2 | 5587 | m.5587T\>C | T5587C\-F2 | T5587C\-F2\-III5 | Fam | F | Y | Y | A | 17 | Homo | / | / | / | Bilateral visual loss; color differentiation difficulty; severe visual impairment |  |
| 3 | 5587 | m.5587T\>C | T5587C\-F3 | T5587C\-F3\-III1 | Fam | M | Y | Y | A | 11 | Homo | / | / | / | Bilateral visual loss |  |
| 4 | 5587 | m.5587T\>C | T5587C\-F4 | T5587C\-F4\-II4 | Fam | F | Y | Y | A | 55 | Heteroplasmic (blood; no %) | / | / | / | Grade 1 hypertension | Carrying A12280G |
| 5 | 5587 | m.5587T\>C | T5587C\-F5 | T5587C\-F5\-III3 | Fam | F | Y | Y | A | 48 | Homo | / | / | / | T2DM | Carrying T12338C |

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