T14577C

# **General Information**

| **Position** | **14577** | **Variant** | **m.14577T\>C** | **Locus** | **MT\-ND6** | **Amino\-AcidChange** | **I33V** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **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.14577T\>C** variant in MT\-ND6 has been reported in 1 pedigree. To date, 6 carriers have been reported. Reported mutation loads ranged from 98\.9%, with a median of 98\.9% overall; affected carriers showed mutation loads from 98\.9%, with a median of 98\.9%. The main clinical manifestations among affected carriers included type 2 diabetes, 22\-year known duration, impaired glucose tolerance, mild neuropathy, and oral agents.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14577 | m.14577T\>C | [T14577C\-F1](https://mitofam.com/doc/2164/) | Japan | Maternally inherited type 2 diabetes | 1 | 4 | 2000 | [10909988](https://pubmed.ncbi.nlm.nih.gov/10909988/) |  |

# **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 | 14577 | m.14577T\>C | T14577C\-F1 | T14577C\-F1\-III12 | Fam | F | Y | Y | A | 69 | 98\.9% | / | / | Positive (BM/F/cybrid cells) | Type 2 diabetes; 22\-year known duration; oral agents; mild neuropathy |  |
| 2 | 14577 | m.14577T\>C | T14577C\-F1 | T14577C\-F1\-III9 | Fam | F | N | Y | A | ND | positive; load NR | / | / | / | Type 2 diabetes |  |
| 3 | 14577 | m.14577T\>C | T14577C\-F1 | T14577C\-F1\-III10 | Fam | F | N | Y | A | ND | positive; load NR | / | / | / | Type 2 diabetes | Using insulin |
| 4 | 14577 | m.14577T\>C | T14577C\-F1 | T14577C\-F1\-IV10 | Fam | F | N | Y | A | ND | positive; load NR | / | / | / | Type 2 diabetes |  |
| 5 | 14577 | m.14577T\>C | T14577C\-F1 | T14577C\-F1\-IV11 | Fam | F | N | N | A | ND | positive; load NR | / | / | / | Healthy |  |
| 6 | 14577 | m.14577T\>C | T14577C\-F1 | T14577C\-F1\-IV12 | Fam | M | N | Y | A | ND | positive; load NR | / | / | / | Impaired glucose tolerance |  |

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