A13849C

# **General Information**

| **Position** | **13849** | **Variant** | **m.13849A\>C** | **Locus** | **MT\-ND5** | **Amino\-AcidChange** | **N505H** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-benign | **Pathogenicity** | Reported \- possibly secondary |

"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.13849A\>C** variant in MT\-ND5 has been reported in 1 pedigree. To date, 2 carriers have been reported. Homoplasmy was reported in 2/2 carriers (100%), and 2/2 carriers (100%) were affected. The main clinical manifestations among affected carriers included bilateral cataracts, recurrent migraine, mELAS phenotype, short stature, diabetes, elevated lactate, hypothyroid, nonspecific MRI changes., and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13849 | m.13849A\>C | [A13849C\-F1](https://mitofam.com/doc/1327/) | Korea | MELAS syndrome with cataracts | 0 | 1 | 2008 | [18587274](https://pubmed.ncbi.nlm.nih.gov/18587274/) | Target m.13849A\>C is reported with a second mtDNA mutation m.9957T\>C; pathogenic contribution should be interpreted cautiously.; Korean MELAS/cataract family; pages 1\-6; Korea; article reports Korean family/affiliations. |

# **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 | 13849 | m.13849A\>C | A13849C\-F1 | A13849C\-F1\-II1 | Fam | M | Y | Y | A | 25 years | Homo | Homo | / | / | MELAS phenotype; bilateral cataracts; diabetes; hypothyroid; recurrent migraine; stroke\-like MRI | Also harbors MT\-CO3 m.9957T\>C.; pages 2\-6; family description and mutation testing.; Source: II\-1 / Patient 1; High lactate; ragged\-red fibers. |
| 2 | 13849 | m.13849A\>C | A13849C\-F1 | A13849C\-F1\-I2 | Fam | F | N | Y | A | 54 years | Homo | / | / | / | Short stature, recurrent migraine, rheumatoid arthritis, bilateral cataracts, elevated lactate, nonspecific MRI changes. | Also harbors MT\-CO3 m.9957T\>C.; pages 2\-6; mother description and mutation testing.; Source: I\-2 / Patient 2 / mother |

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