A1555G-F221

**Figure 1\. Pedigree diagram for family A1555G\-F221\.**

![](/media/202607/A1555G-F221-pedigree_20260701021722033899.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\-F221 | Israel | symptomatic and asymptomatic members of a large family carrying A1555G; cybrid/functional study | ND | ND | 2001 | [11230176](https://pubmed.ncbi.nlm.nih.gov/11230176/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F221 from Israel with symptomatic and asymptomatic members of a large family carrying a1555g; cybrid/functional study. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 0/8 carriers were affected, and the main clinical manifestation among affected carriers was not available.

# 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\-F221 | A1555G\-F221\-II1 | Fam | ND | ND | ND | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | ND | Original carrier ID: F6H; symptomatic family member; detailed phenotype not provided |
| 2 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II2 | Fam | ND | ND | ND | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | ND | Original carrier ID: F7C; symptomatic family member; detailed phenotype not provided |
| 3 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II3 | Fam | ND | ND | ND | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | ND | Original carrier ID: F7D; symptomatic family member; detailed phenotype not provided |
| 4 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II4 | Fam | ND | ND | ND | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | ND | Original carrier ID: F12G; symptomatic family member; detailed phenotype not provided |
| 5 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II5 | Fam | ND | ND | ND | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | ND | Original carrier ID: F12J; symptomatic family member; detailed phenotype not provided |
| 6 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II6 | Fam | ND | ND | N | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Healthy | Original carrier ID: F6C |
| 7 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II7 | Fam | ND | ND | N | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Healthy | Original carrier ID: F12D |
| 8 | 1555 | m.1555A\>G | A1555G\-F221 | A1555G\-F221\-II8 | Fam | ND | ND | N | ND | ND | / | / | / | Homo(lymphoblastoid/cybrid) | Healthy | Original carrier ID: F12H |

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