G16023A

# **General Information**

| **Position** | **16023** | **Variant** | **m.16023G\>A** | **Locus** | **MT\-TP** | **RNA** | **tRNA Pro** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 83\.70% | **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.16023G\>A** variant in MT\-TP has been reported in 2 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 86%, with a median of 2\.1% overall; affected carriers showed mutation loads from 0% to 86%, with a median of 2\.1%; unaffected carriers showed mutation loads from 1% to 7%, with a median of 4%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (86%) and urine (36%) than in blood (9%). In one unaffected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in urine (7%) than in blood (1%). The main clinical manifestations among affected carriers included liver dysfunction, migraine, deafness, developmental delay, fatigue, pigmentary retinopathy, and urticaria.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 16023 | m.16023G\>A | [G16023A\-F1 ](https://mitofam.com/doc/1236/)| UK | Migraine, pigmentary retinopathy, deafness | 1 | 0 | 2013 | [23696415](https://pubmed.ncbi.nlm.nih.gov/23696415/) |  |
| 2 | 16023 | m.16023G\>A | G16023A\-F2 | USA | Liver dysfunction, urticaria, developmental delay, fatigue | 0 | 0 | 2022 | [34969639](https://pubmed.ncbi.nlm.nih.gov/34969639/) | Carrying m.6419delA |

# **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 | 16023 | m.16023G\>A | G16023A\-F1 | G16023A\-F1\-II1 | Fam | F | Y | Y | A | 35 | 9% | 86% | 36% | / | Migraine, pigmentary retinopathy, deafness |  |
| 2 | 16023 | m.16023G\>A | G16023A\-F1 | G16023A\-F1\-I2 | Uninf | F | N | N | A | ND | 1% | / | 7% | / | Healthy |  |
| 3 | 16023 | m.16023G\>A | G16023A\-F2 | G16023A\-F2\-II1 | De novo | M | Y | Y | A | 1\.4 | 2% | 2\.1% | 0 | 0% (BM) | Liver dysfunction, urticaria, developmental delay, fatigue | Carrying m.6419delA (M:29%; B:28%; U:51%; BM:25%) |

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