A1555G-F186

**Figure 1\. Pedigree diagram for family A1555G\-F186\.**

![](/media/202607/A1555G-F186-pedigree_20260701021202098708.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1555 | m.1555A\>G | A1555G\-F186 | Portugal | Mitochondrial disease cohort with three homoplasmic MT\-RNR1 m.1555A\>G patients | ND | ND | 2024 | [38465286](https://pubmed.ncbi.nlm.nih.gov/38465286/) | Family 38465286 |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F186 from Portugal with mitochondrial disease cohort with three homoplasmic mt\-rnr1 m.1555a\>g patients. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was parkinsonism, neurological symptoms plus deafness..

# 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 | 1555 | m.1555A\>G | A1555G\-F186 | A1555G\-F186\-II1 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | Parkinsonism | in mitochondrial disease cohort |
| 2 | 1555 | m.1555A\>G | A1555G\-F186 | A1555G\-F186\-II2 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | Neurological symptoms plus deafness. |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F186 | A1555G\-F186\-II3 | Fam | ND | N | Y | ND | ND | Homo | / | / | / | Neurological symptoms plus deafness. |  |

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