A1555G-F227

**Figure 1\. Pedigree diagram for family A1555G\-F227\.**

![](/media/202607/A1555G-F227-pedigree_20260701021756890034.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\-F227 | Finland | large multigenerational family with m.1555A\>G and SSBP1 start\-loss modifier segregating with hearing loss | 3 | 6 | 2018 | [29182774](https://pubmed.ncbi.nlm.nih.gov/29182774/) | Family B |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F227 from Finland with large multigenerational family with m.1555a\>g and ssbp1 start\-loss modifier segregating with hearing loss. The pedigree record reported 3 unaffected and 6 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in all listed carriers; 5/9 carriers were affected, and the main clinical manifestation among affected carriers was hearing loss.

# 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\-F227 | A1555G\-F227\-IV2 | Fam | F | ND | ND | ND | ND | Homo | / | / | / | ND | Original carrier ID: IV\-2\-Family\-B; affected individual used for exome sequencing |
| 2 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV1 | Fam | M | ND | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: IV\-1\-Family\-B |
| 3 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV3 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Hearing loss | Original carrier ID: IV\-3\-Family\-B |
| 4 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV4 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Hearing loss | Original carrier ID: IV\-4\-Family\-B |
| 5 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV5 | Fam | M | ND | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: IV\-5\-Family\-B |
| 6 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV6 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Hearing loss | Original carrier ID: IV\-6\-Family\-B |
| 7 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV7 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Hearing loss | Original carrier ID: IV\-7\-Family\-B |
| 8 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV8 | Fam | F | ND | N | ND | ND | Homo | / | / | / | Healthy | Original carrier ID: IV\-8\-Family\-B |
| 9 | 1555 | m.1555A\>G | A1555G\-F227 | A1555G\-F227\-IV9 | Fam | M | ND | Y | ND | ND | Homo | / | / | / | Hearing loss | Original carrier ID: IV\-9\-Family\-B |

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