T15287C

# **General Information**

| **Position** | **15287** | **Variant** | **m.15287T\>C** | **Locus** | **MT\-CYB** | **Amino\-AcidChange** | **F181L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | Benign | **Pathogenicity** | Reported; hg I6a \& H10c marker |

"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.15287T\>C** variant in MT\-CYB has been reported in 3 pedigrees. To date, 13 carriers have been reported. Homoplasmy was reported in 2/13 carriers (15\.4%), and 8/13 carriers (61\.5%) were affected. The main clinical manifestations among affected carriers included aminoglycoside exposure, hearing impairment, mild hearing loss, severe hearing loss, onset 9, onset unknown, profound hearing loss, unilateral moderate hearing loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15287 | m.15287T\>C | [T15287C\-F1](https://mitofam.com/doc/1973/) | Spain | Hearing impairment | 5 | 5 | 2008 | [17999439](https://pubmed.ncbi.nlm.nih.gov/17999439/) | Co\-segregating m.1555A\>G; T15287C mutant load calculated as 100 \- Table 1 %T. |
| 2 | 15287 | m.15287T\>C | T15287C\-F2 | Spain | Hearing impairment | 0 | 0 | 2008 | [17999439](https://pubmed.ncbi.nlm.nih.gov/17999439/) | Homoplasmic additional index/nuclear family; supplement needed for pedigree labels. |
| 3 | 15287 | m.15287T\>C | T15287C\-F3 | Spain | Hearing impairment | 0 | 0 | 2008 | [17999439](https://pubmed.ncbi.nlm.nih.gov/17999439/) | Homoplasmic additional index/nuclear family; supplement needed for pedigree labels. |

# **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 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-I2 | Uninf | F | ND | N | D | 85 | 34\.2% | / | / | / | Healthy | Co\-occurring m.1555A\>G; C load \= 100 \- Table 1 %T. |
| 2 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II1 | Fam | F | ND | Y | A | 55 | 95\.3% | / | / | / | Mild hearing loss; onset unknown | C load \= 100 \- Table 1 %T. |
| 3 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II2 | Fam | M | ND | Y | A | 55 | 87\.1% | / | / | / | Mild hearing loss; onset 30; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 4 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II4 | Fam | F | ND | N | A | 57 | 90\.7% | / | / | 90\.2% (saliva) | Healthy | Blood/saliva C load \= 100 \- Table 1 %T. |
| 5 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-II6 | Fam | F | ND | N | A | 59 | 36\.8% | / | / | 25\.7% (saliva) | Healthy | Blood/saliva C load \= 100 \- Table 1 %T. |
| 6 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III1 | Fam | M | ND | Y | A | 32 | 92\.7% | / | / | / | Severe hearing loss; onset 9; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 7 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III2 | Fam | F | ND | Y | A | 29 | 95\.3% | / | / | / | Profound hearing loss; onset 5; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 8 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III3 | Fam | M | ND | Y | A | 32 | 95\.3% | / | / | 95\.3% (saliva) | Severe hearing loss; onset 9; aminoglycoside exposure | C load \= 100 \- Table 1 %T. |
| 9 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III4 | Fam | M | ND | N | A | 20 | 2\.6% | / | / | 3\.1% (saliva) | Healthy | Low\-level pyrosequencing signal; Table 2 direct sequencing did not show this variant. |
| 10 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III5 | Fam | F | ND | N | A | 35 | 5\.9% | / | / | 6\.2% (saliva) | Healthy | Low\-level pyrosequencing signal. |
| 11 | 15287 | m.15287T\>C | T15287C\-F1 | T15287C\-F1\-III6 | Fam | F | ND | Y | A | 32 | 7\.8% | / | / | 12\.9% (saliva) | Unilateral moderate hearing loss; onset unknown | Low\-level pyrosequencing signal. |
| 12 | 15287 | m.15287T\>C | T15287C\-F2 | T15287C\-F2\-I1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Hearing impairment | Homoplasmic additional index/nuclear family from main text; Supplementary Fig. S3 unavailable. |
| 13 | 15287 | m.15287T\>C | T15287C\-F3 | T15287C\-F3\-I1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | Hearing impairment | Homoplasmic additional index/nuclear family from main text; Supplementary Fig. S3 unavailable. |

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