A4316G

# **General Information**

| **Position** | **4316** | **Variant** | **m.4316A\>G** | **Locus** | **MT\-TI** | **RNA** | **tRNA Ile** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | 37\.10% | **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.4316A\>G** variant in MT\-TI has been reported in 1 pedigree. To date, 4 carriers have been reported. Reported mutation loads ranged from 42% to 97%, with a median of 64% overall; affected carriers showed mutation loads from 97%, with a median of 97%; unaffected carriers showed mutation loads from 42% to 82%, with a median of 46%. The main clinical manifestations among affected carriers included hypertrophic cardiomyopathy, bilateral sensorineural hearing loss, buccal cyanosis, choking, mitral murmur, and profound hearing loss.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 4316 | m.4316A\>G | [A4316G\-F1](https://mitofam.com/doc/615/) | Tunisia | Hypertrophic cardiomyopathy, profound hearing loss | 3 | 0 | 2011 | [21144833](https://pubmed.ncbi.nlm.nih.gov/21144833/) | Carrying A3395G |

# **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 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-I2 | Fam | F | N | N | A | ND | 82% | / | / | / | Healthy |  |
| 2 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-II1 | Fam | F | Y | Y | A | 1 | 97% | / | / | / | Hypertrophic cardiomyopathy, profound hearing loss, buccal cyanosis, mitral murmur, choking, bilateral sensorineural hearing loss |  |
| 3 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-II2 | Fam | F | N | N | A | 5 | 42% | / | / | / | Healthy |  |
| 4 | 4316 | m.4316A\>G | A4316G\-F1 | A4316G\-F1\-II3 | Fam | F | N | N | A | 20 months | 46% | / | / | / | Healthy |  |

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