C5601T

# **General Information**

| **Position** | **5601** | **Variant** | **m.5601C\>T** | **Locus** | **MT\-TA** | **RNA** | **tRNA Ala** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **mitoTIP** | 4\.20% | **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.5601C\>T** variant in MT\-TA has been reported in 11 pedigrees. To date, 18 carriers have been reported. Homoplasmy was reported in 18/18 carriers (100%), and 18/18 carriers (100%) were affected. The main clinical manifestations among affected carriers included late\-onset T2DM, level of hearing loss is profound, visual impairment was severe., early\-onset T2DM, high\-penetrance, hypertension, level of hearing loss is mild, painless bilateral vision loss, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5601 | m.5601C\>T | C5601T\-F1 | China | LHON | 19 | 1 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 2 | 5601 | m.5601C\>T | C5601T\-F2 | China | LHON | 6 | 0 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 3 | 5601 | m.5601C\>T | C5601T\-F3 | China | LHON | 7 | 0 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 4 | 5601 | m.5601C\>T | C5601T\-F4 | China | LHON | 13 | 0 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 5 | 5601 | m.5601C\>T | C5601T\-F5 | China | LHON | 3 | 0 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 6 | 5601 | m.5601C\>T | C5601T\-F6 | China | LHON | 7 | 1 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 7 | 5601 | m.5601C\>T | C5601T\-F7 | China | LHON | 3 | 0 | 2012 | [https://kns.cnki.net/kcms2/article/abstract?v\=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI\-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1\-KYuEAItWP1ShGgyRt\-QlRFvK3uuecRJ\-fAg\=\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=FFXUSKHsLlbakJQzERAtC3kLr0TFAMrnqF8LRhRvHZfDSygJqjke4cqyTXG3gypveq5PtweFBWiPcjbyPRPFmNTzfy7mzI4GvncUbLPxNclHC98AuI-WorOC5dgrN2cnsvwcyKBuP8NImQp9Z1-KYuEAItWP1ShGgyRt-QlRFvK3uuecRJ-fAg==&uniplatform=NZKPT&language=CHS) |  |
| 8 | 5601 | m.5601C\>T | C5601T\-F8 | China | Maternally inherited hypertension | 5 | 4 | 2018 | [29211511](https://pubmed.ncbi.nlm.nih.gov/29211511/) | Carrying A4435G |
| 9 | 5601 | m.5601C\>T | [C5601T\-F9](https://mitofam.com/doc/786/) | China | LHON | 7 | 3 | 2020 | [31939618](https://pubmed.ncbi.nlm.nih.gov/31939618/) | Carrying G11778A |
| 10 | 5601 | m.5601C\>T | [C5601T\-F10](https://mitofam.com/doc/787/) | China | NSHL | 4 | 3 | 2022 | [35218233](https://pubmed.ncbi.nlm.nih.gov/35218233/) | Carrying T12311C |
| 11 | 5601 | m.5601C\>T | [C5601T\-F11](https://mitofam.com/doc/788/) | China | T2DM | 3 | 3 | 2023 | [37371486](https://pubmed.ncbi.nlm.nih.gov/37371486/) | Carrying G11696A, T5813C |

# **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 | 5601 | m.5601C\>T | C5601T\-F1 | C5601T\-F1\-III2 | Fam | F | Y | Y | A | 33 | Homo | / | / | / | The visual impairment is moderate |  |
| 2 | 5601 | m.5601C\>T | C5601T\-F2 | C5601T\-F2\-III3 | Fam | F | Y | Y | A | 22 | Homo | / | / | / | Visual impairment was severe. |  |
| 3 | 5601 | m.5601C\>T | C5601T\-F3 | C5601T\-F3\-IV9 | Fam | F | Y | Y | A | 12 | Homo | / | / | / | The left lower limb exhibited delayed movement after exertion. Visual impairment was mild. |  |
| 4 | 5601 | m.5601C\>T | C5601T\-F4 | C5601T\-F4\-II10 | Fam | F | Y | Y | A | 32 | Homo | / | / | / | Visual impairment is mild. |  |
| 5 | 5601 | m.5601C\>T | C5601T\-F5 | C5601T\-F5\-III5 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | Visual impairment is severe. |  |
| 6 | 5601 | m.5601C\>T | C5601T\-F6 | C5601T\-F6\-III3 | Fam | M | Y | Y | A | 25 | Homo | / | / | / | The visual impairment is severe. |  |
| 7 | 5601 | m.5601C\>T | C5601T\-F7 | C5601T\-F7\-III2 | Fam | M | Y | Y | A | 16 | Homo | / | / | / | Visual impairment was mild. |  |
| 8 | 5601 | m.5601C\>T | C5601T\-F8 | C5601T\-F8\-II8 | Fam | F | Y | Y | A | 68 | Homo | / | / | / | High\-penetrance,Hypertension | Carrying A4435G |
| 9 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-II12 | Fam | F | Y | Y | A | 39 | Homo | / | / | / | Painless bilateral vision loss, color differentiation difficulty, centrocecal scotoma | Carrying G11778A |
| 10 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-III8 | Fam | M | N | Y | A | 7 | Homo | / | / | / | Visual impairment was profound | Carrying G11778A |
| 11 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-II7 | Fam | M | N | Y | A | 33 | Homo | / | / | / | Visual impairment was moderate | Carrying G11778A |
| 12 | 5601 | m.5601C\>T | C5601T\-F9 | C5601T\-F9\-II5 | Fam | M | N | Y | A | 35 | Homo | / | / | / | Visual impairment was severe. | Carrying G11778A |
| 13 | 5601 | m.5601C\>T | C5601T\-F10 | C5601T\-F10\-IV4 | Fam | M | Y | Y | A | 24 | Homo | / | / | / | Level of hearing loss is mild | Carrying T12311C |
| 14 | 5601 | m.5601C\>T | C5601T\-F10 | C5601T\-F10\-II2 | Fam | F | N | Y | A | 75 | Homo | / | / | / | Level of hearing loss is profound | Carrying T12311C |
| 15 | 5601 | m.5601C\>T | C5601T\-F10 | C5601T\-F10\-III1 | Fam | M | N | Y | A | 50 | Homo | / | / | / | Level of hearing loss is profound | Carrying T12311C |
| 16 | 5601 | m.5601C\>T | C5601T\-F11 | C5601T\-F11\-II1 | Fam | M | N | Y | A | 65 | Homo | / | / | / | Late\-onset T2DM | Carrying G11696A, T5813C |
| 17 | 5601 | m.5601C\>T | C5601T\-F11 | C5601T\-F11\-II4 | Fam | F | N | Y | A | 68 | Homo | / | / | / | Late\-onset T2DM, high HbA1c | Carrying G11696A, T5813C |
| 18 | 5601 | m.5601C\>T | C5601T\-F11 | C5601T\-F11\-III6 | Fam | F | Y | Y | A | 40 | Homo | / | / | / | Early\-onset T2DM | Carrying G11696A, T5813C |

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