PubMed:28398555
Annnotations
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 12662 | 47-58 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12663 | 83-88 | OrganismTaxon | denotes | human | NCBITaxon:9606 |
| 12664 | 89-97 | DiseaseOrPhenotypicFeature | denotes | dystonia | MESH:D004421 |
| 12665 | 99-107 | DiseaseOrPhenotypicFeature | denotes | Dystonia | MESH:D004421 |
| 12666 | 113-143 | DiseaseOrPhenotypicFeature | denotes | neurological movement disorder | MESH:D009069 |
| 12667 | 326-330 | SequenceVariant | denotes | T71N | DBSNP:rs775863165 |
| 12668 | 335-340 | SequenceVariant | denotes | A190T | DBSNP:rs550921485 |
| 12669 | 348-371 | GeneOrGeneProduct | denotes | neuronal calcium sensor | NCBIGene:3208 |
| 12670 | 373-376 | GeneOrGeneProduct | denotes | NCS | NCBIGene:3208 |
| 12671 | 378-389 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12672 | 430-455 | DiseaseOrPhenotypicFeature | denotes | primary isolated dystonia | MESH:D004421 |
| 12673 | 457-461 | GeneOrGeneProduct | denotes | DYT2 | NCBIGene:3208 |
| 12674 | 462-470 | DiseaseOrPhenotypicFeature | denotes | dystonia | MESH:D004421 |
| 12675 | 541-552 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12676 | 639-650 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12677 | 669-676 | ChemicalEntity | denotes | calcium | MESH:D002118 |
| 12678 | 707-737 | GeneOrGeneProduct | denotes | voltage-gated calcium channels | NCBIGene:783 |
| 12679 | 749-753 | SequenceVariant | denotes | T71N | DBSNP:rs775863165 |
| 12680 | 758-763 | SequenceVariant | denotes | A190T | DBSNP:rs550921485 |
| 12681 | 767-778 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12682 | 805-812 | ChemicalEntity | denotes | calcium | MESH:D002118 |
| 12683 | 870-874 | ChemicalEntity | denotes | Ca2+ | MESH:D000069285 |
| 12684 | 937-948 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12685 | 974-977 | GeneOrGeneProduct | denotes | NCS | NCBIGene:3208 |
| 12686 | 1324-1331 | ChemicalEntity | denotes | calcium | MESH:D002118 |
| 12687 | 1342-1345 | ChemicalEntity | denotes | KCl | MESH:D011189 |
| 12688 | 1383-1394 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12689 | 1413-1450 | GeneOrGeneProduct | denotes | N-type voltage-gated calcium channels | NCBIGene:774 |
| 12690 | 1482-1490 | DiseaseOrPhenotypicFeature | denotes | dystonia | MESH:D004421 |
| 12691 | 1525-1536 | GeneOrGeneProduct | denotes | hippocalcin | NCBIGene:3208 |
| 12692 | 1599-1606 | ChemicalEntity | denotes | calcium | MESH:D002118 |
| 12693 | 1621-1625 | GeneOrGeneProduct | denotes | DYT2 | NCBIGene:3208 |
| 12694 | 1626-1634 | DiseaseOrPhenotypicFeature | denotes | dystonia | MESH:D004421 |
LitCoin-entities-OrganismTaxon-PD
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 83-88 | OrganismTaxon | denotes | human | NCBItxid:9606 |
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T2 | 99-240 | Sentence | denotes | Dystonia is a neurological movement disorder that forces the body into twisting, repetitive movements or sometimes painful abnormal postures. |
| T1 | 0-98 | Sentence | denotes | Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia. |
| T3 | 241-472 | Sentence | denotes | With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were identified as the genetic cause of primary isolated dystonia (DYT2 dystonia). |
| T4 | 473-581 | Sentence | denotes | However, the effect of these mutations on the physiological role of hippocalcin has not yet been elucidated. |
| T5 | 582-738 | Sentence | denotes | Using a multidisciplinary approach, we demonstrated that hippocalcin oligomerises in a calcium-dependent manner and binds to voltage-gated calcium channels. |
| T6 | 739-893 | Sentence | denotes | Mutations T71N and A190T in hippocalcin did not affect stability, calcium-binding affinity or translocation to cellular membranes (Ca2+/myristoyl switch). |
| T7 | 894-1132 | Sentence | denotes | We obtained the first crystal structure of hippocalcin and alignment with other NCS proteins showed significant variability in the orientation of the C-terminal part of the molecule, the region expected to be important for target binding. |
| T8 | 1133-1285 | Sentence | denotes | We demonstrated that the disease-causing mutations did not affect the structure of the protein, however both mutants showed a defect in oligomerisation. |
| T9 | 1286-1451 | Sentence | denotes | In addition, we observed an increased calcium influx in KCl-depolarised cells expressing mutated hippocalcin, mostly driven by N-type voltage-gated calcium channels. |
| T10 | 1452-1635 | Sentence | denotes | Our data demonstrate that the dystonia-causing mutations strongly affect hippocalcin cellular functions which suggest a central role for perturbed calcium signalling in DYT2 dystonia. |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 126-143 | DiseaseOrPhenotypicFeature | denotes | movement disorder | 0005395 |
| T2 | 348-356 | DiseaseOrPhenotypicFeature | denotes | neuronal | 0004466 |
| T3 | 438-455 | DiseaseOrPhenotypicFeature | denotes | isolated dystonia | 0015494 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 326-330 | SequenceVariant | denotes | T71N |
| T2 | 335-340 | SequenceVariant | denotes | A190T |
| T3 | 749-753 | SequenceVariant | denotes | T71N |
| T4 | 758-763 | SequenceVariant | denotes | A190T |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-58 | GeneOrGeneProduct | denotes | hippocalcin |
| T2 | 59-66 | GeneOrGeneProduct | denotes | mutants |
| T3 | 149-155 | GeneOrGeneProduct | denotes | forces |
| T4 | 170-178 | GeneOrGeneProduct | denotes | twisting |
| T5 | 214-221 | GeneOrGeneProduct | denotes | painful |
| T6 | 316-325 | GeneOrGeneProduct | denotes | mutations |
| T7 | 348-371 | GeneOrGeneProduct | denotes | neuronal calcium sensor |
| T8 | 373-376 | GeneOrGeneProduct | denotes | NCS |
| T9 | 378-389 | GeneOrGeneProduct | denotes | hippocalcin |
| T10 | 457-461 | GeneOrGeneProduct | denotes | DYT2 |
| T11 | 502-511 | GeneOrGeneProduct | denotes | mutations |
| T12 | 541-552 | GeneOrGeneProduct | denotes | hippocalcin |
| T13 | 639-650 | GeneOrGeneProduct | denotes | hippocalcin |
| T14 | 664-668 | GeneOrGeneProduct | denotes | in a |
| T15 | 698-703 | GeneOrGeneProduct | denotes | binds |
| T16 | 707-737 | GeneOrGeneProduct | denotes | voltage-gated calcium channels |
| T17 | 739-748 | GeneOrGeneProduct | denotes | Mutations |
| T18 | 767-778 | GeneOrGeneProduct | denotes | hippocalcin |
| T19 | 805-820 | GeneOrGeneProduct | denotes | calcium-binding |
| T20 | 833-846 | GeneOrGeneProduct | denotes | translocation |
| T21 | 870-873 | GeneOrGeneProduct | denotes | Ca2 |
| T22 | 885-891 | GeneOrGeneProduct | denotes | switch |
| T23 | 937-948 | GeneOrGeneProduct | denotes | hippocalcin |
| T24 | 968-973 | GeneOrGeneProduct | denotes | other |
| T25 | 974-977 | GeneOrGeneProduct | denotes | NCS |
| T26 | 978-986 | GeneOrGeneProduct | denotes | proteins |
| T27 | 1044-1054 | GeneOrGeneProduct | denotes | C-terminal |
| T28 | 1055-1059 | GeneOrGeneProduct | denotes | part |
| T29 | 1124-1131 | GeneOrGeneProduct | denotes | binding |
| T30 | 1174-1183 | GeneOrGeneProduct | denotes | mutations |
| T31 | 1220-1227 | GeneOrGeneProduct | denotes | protein |
| T32 | 1242-1249 | GeneOrGeneProduct | denotes | mutants |
| T33 | 1259-1265 | GeneOrGeneProduct | denotes | defect |
| T34 | 1358-1363 | GeneOrGeneProduct | denotes | cells |
| T35 | 1375-1382 | GeneOrGeneProduct | denotes | mutated |
| T36 | 1383-1394 | GeneOrGeneProduct | denotes | hippocalcin |
| T37 | 1420-1450 | GeneOrGeneProduct | denotes | voltage-gated calcium channels |
| T38 | 1499-1508 | GeneOrGeneProduct | denotes | mutations |
| T39 | 1525-1536 | GeneOrGeneProduct | denotes | hippocalcin |
| T40 | 1621-1625 | GeneOrGeneProduct | denotes | DYT2 |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-58 | GeneOrGeneProduct | denotes | hippocalcin |
| T2 | 348-371 | GeneOrGeneProduct | denotes | neuronal calcium sensor |
| T3 | 373-376 | GeneOrGeneProduct | denotes | NCS |
| T4 | 378-389 | GeneOrGeneProduct | denotes | hippocalcin |
| T5 | 457-461 | GeneOrGeneProduct | denotes | DYT2 |
| T6 | 541-552 | GeneOrGeneProduct | denotes | hippocalcin |
| T7 | 639-650 | GeneOrGeneProduct | denotes | hippocalcin |
| T8 | 707-737 | GeneOrGeneProduct | denotes | voltage-gated calcium channels |
| T9 | 767-778 | GeneOrGeneProduct | denotes | hippocalcin |
| T10 | 805-820 | GeneOrGeneProduct | denotes | calcium-binding |
| T11 | 833-846 | GeneOrGeneProduct | denotes | translocation |
| T12 | 885-891 | GeneOrGeneProduct | denotes | switch |
| T13 | 937-948 | GeneOrGeneProduct | denotes | hippocalcin |
| T14 | 968-973 | GeneOrGeneProduct | denotes | other |
| T15 | 974-977 | GeneOrGeneProduct | denotes | NCS |
| T16 | 1044-1054 | GeneOrGeneProduct | denotes | C-terminal |
| T17 | 1124-1131 | GeneOrGeneProduct | denotes | binding |
| T18 | 1220-1227 | GeneOrGeneProduct | denotes | protein |
| T19 | 1383-1394 | GeneOrGeneProduct | denotes | hippocalcin |
| T20 | 1420-1450 | GeneOrGeneProduct | denotes | voltage-gated calcium channels |
| T21 | 1525-1536 | GeneOrGeneProduct | denotes | hippocalcin |
| T22 | 1621-1625 | GeneOrGeneProduct | denotes | DYT2 |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 89-97 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T2 | 99-107 | DiseaseOrPhenotypicFeature | denotes | Dystonia | D004421 |
| T3 | 126-143 | DiseaseOrPhenotypicFeature | denotes | movement disorder | D009069 |
| T4 | 447-455 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T5 | 462-470 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T6 | 1158-1165 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
| T7 | 1482-1490 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T8 | 1626-1634 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-58 | GeneOrGeneProduct | denotes | hippocalcin |
| T2 | 348-371 | GeneOrGeneProduct | denotes | neuronal calcium sensor |
| T3 | 373-376 | GeneOrGeneProduct | denotes | NCS |
| T4 | 378-389 | GeneOrGeneProduct | denotes | hippocalcin |
| T5 | 457-461 | GeneOrGeneProduct | denotes | DYT2 |
| T6 | 541-552 | GeneOrGeneProduct | denotes | hippocalcin |
| T7 | 639-650 | GeneOrGeneProduct | denotes | hippocalcin |
| T8 | 707-737 | GeneOrGeneProduct | denotes | voltage-gated calcium channels |
| T9 | 767-778 | GeneOrGeneProduct | denotes | hippocalcin |
| T10 | 937-948 | GeneOrGeneProduct | denotes | hippocalcin |
| T11 | 974-977 | GeneOrGeneProduct | denotes | NCS |
| T12 | 1383-1394 | GeneOrGeneProduct | denotes | hippocalcin |
| T13 | 1420-1450 | GeneOrGeneProduct | denotes | voltage-gated calcium channels |
| T14 | 1525-1536 | GeneOrGeneProduct | denotes | hippocalcin |
| T15 | 1621-1625 | GeneOrGeneProduct | denotes | DYT2 |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 89-97 | DiseaseOrPhenotypicFeature | denotes | dystonia | 0003441 |
| T2 | 99-107 | DiseaseOrPhenotypicFeature | denotes | Dystonia | 0003441 |
| T3 | 126-143 | DiseaseOrPhenotypicFeature | denotes | movement disorder | 0005395 |
| T4 | 438-455 | DiseaseOrPhenotypicFeature | denotes | isolated dystonia | 0015494 |
| T5 | 457-461 | DiseaseOrPhenotypicFeature | denotes | DYT2 | 0009141 |
| T6 | 462-470 | DiseaseOrPhenotypicFeature | denotes | dystonia | 0003441 |
| T7 | 1259-1265 | DiseaseOrPhenotypicFeature | denotes | defect | 0008568 |
| T8 | 1482-1490 | DiseaseOrPhenotypicFeature | denotes | dystonia | 0003441 |
| T9 | 1621-1625 | DiseaseOrPhenotypicFeature | denotes | DYT2 | 0009141 |
| T10 | 1626-1634 | DiseaseOrPhenotypicFeature | denotes | dystonia | 0003441 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 89-97 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T2 | 99-107 | DiseaseOrPhenotypicFeature | denotes | Dystonia | D004421 |
| T3 | 126-143 | DiseaseOrPhenotypicFeature | denotes | movement disorder | D009069 |
| T4 | 447-455 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T5 | 462-470 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T6 | 1158-1165 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
| T7 | 1482-1490 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T8 | 1626-1634 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 89-97 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T2 | 99-107 | DiseaseOrPhenotypicFeature | denotes | Dystonia | D004421 |
| T3 | 126-143 | DiseaseOrPhenotypicFeature | denotes | movement disorder | D009069 |
| T4 | 447-455 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T5 | 462-470 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T6 | 1482-1490 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
| T7 | 1626-1634 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 357-364 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
| T4 | 373-376 | ChemicalEntity | denotes | NCS | http://purl.obolibrary.org/obo/CHEBI_53203 |
| T5 | 669-676 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
| T8 | 721-728 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
| T11 | 805-812 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
| T14 | 875-884 | ChemicalEntity | denotes | myristoyl | http://purl.obolibrary.org/obo/CHEBI_25456 |
| T15 | 974-977 | ChemicalEntity | denotes | NCS | http://purl.obolibrary.org/obo/CHEBI_53203 |
| T16 | 1324-1331 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
| T19 | 1342-1345 | ChemicalEntity | denotes | KCl | http://purl.obolibrary.org/obo/CHEBI_32588 |
| T20 | 1434-1441 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
| T23 | 1599-1606 | ChemicalEntity | denotes | calcium | D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 83-88 | OrganismTaxon | denotes | human |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T23 | 1599-1606 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T20 | 1434-1441 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T19 | 1342-1345 | ChemicalEntity | denotes | KCl | http://purl.obolibrary.org/obo/CHEBI_32588 | |
| T16 | 1324-1331 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T15 | 974-977 | ChemicalEntity | denotes | NCS | http://purl.obolibrary.org/obo/CHEBI_53203 | |
| T14 | 875-884 | ChemicalEntity | denotes | myristoyl | http://purl.obolibrary.org/obo/CHEBI_25456 | |
| T11 | 805-812 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T8 | 721-728 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T5 | 669-676 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T4 | 373-376 | ChemicalEntity | denotes | NCS | http://purl.obolibrary.org/obo/CHEBI_53203 | |
| T1 | 357-364 | ChemicalEntity | denotes | calcium | http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118 | |
| T2194 | 1621-1625 | GeneOrGeneProduct | denotes | DYT2 | ||
| T27411 | 1525-1536 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T13 | 1420-1450 | GeneOrGeneProduct | denotes | voltage-gated calcium channels | ||
| T12 | 1383-1394 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T74980 | 974-977 | GeneOrGeneProduct | denotes | NCS | ||
| T10 | 937-948 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T9 | 767-778 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T28299 | 707-737 | GeneOrGeneProduct | denotes | voltage-gated calcium channels | ||
| T7 | 639-650 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T6 | 541-552 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T41634 | 457-461 | GeneOrGeneProduct | denotes | DYT2 | ||
| T33976 | 378-389 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T3 | 373-376 | GeneOrGeneProduct | denotes | NCS | ||
| T2 | 348-371 | GeneOrGeneProduct | denotes | neuronal calcium sensor | ||
| T98032 | 47-58 | GeneOrGeneProduct | denotes | hippocalcin | ||
| T76179 | 1626-1634 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 | |
| T78573 | 1482-1490 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 | |
| T19724 | 462-470 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 | |
| T89605 | 447-455 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 | |
| T82986 | 126-143 | DiseaseOrPhenotypicFeature | denotes | movement disorder | D009069 | |
| T32476 | 99-107 | DiseaseOrPhenotypicFeature | denotes | Dystonia | D004421 | |
| T11177 | 89-97 | DiseaseOrPhenotypicFeature | denotes | dystonia | D004421 | |
| T7056 | 83-88 | OrganismTaxon | denotes | human | ||
| T26514 | 758-763 | SequenceVariant | denotes | A190T | ||
| T22121 | 749-753 | SequenceVariant | denotes | T71N | ||
| T91846 | 335-340 | SequenceVariant | denotes | A190T | ||
| T86809 | 326-330 | SequenceVariant | denotes | T71N |