A547T

# **General Information**

| **Position** | **547** | **Variant** | **m.547A\>T** | **Locus** | **MT\-CR** | **Amino\-AcidChange** | **noncoding** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | NA | **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.547A\>T** variant in MT\-CR has been reported in 1 pedigree. To date, 17 carriers have been reported. Homoplasmy was reported in 17/17 carriers (100%), and 17/17 carriers (100%) were affected. The main clinical manifestations among affected carriers included tubulointerstitial kidney disease, ESRD, and CKD.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 547 | m.547A\>T | [A547T\-F1](https://mitofam.com/doc/1892/) | UK | Progressive renal impairment, ESRD, CKD, tubulointerstitial kidney disease | 1 | 16 | 2017 | [28267784](https://pubmed.ncbi.nlm.nih.gov/28267784/) | Fig 1; no explicit proband; H\=17\-1; IV3 counted as target\-renal Affected\=N only. |

# **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 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-II5 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 2 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III3 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 3 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III4 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 4 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III6 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 5 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III8 | Fam | M | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 6 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III9 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 7 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III11 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 8 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III12 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 9 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III14 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 10 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV1 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 11 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV2 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 12 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV4 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 13 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV5 | Fam | M | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 14 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV7 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 15 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV8 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 16 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV9 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 17 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV10 | Fam | M | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |

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