A novel mutation in SLC1A3 causes episodic ataxia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2017-12-05

AUTHORS

Kazuhiro Iwama, Aya Iwata, Masaaki Shiina, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto

ABSTRACT

Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c.383T>G (p.Met128Arg) in SLC1A3, in an EA patient by whole-exome sequencing. The modeled structural analysis suggested that p.Met128Arg may affect the hydrophobic transmembrane environment and protein function. Analysis of the pathogenicity of all mutations found in SLC1A3 to date using multiple prediction tools showed some advantage of using the Mendelian Clinically Applicable Pathogenicity (M-CAP) score. Various types of SLC1A3 variants, including nonsense mutations and indels, in the ExAC database suggest that the loss-of-function mechanism by SLC1A3 mutations is unlikely in EA6. The current mutation (p.Med128Arg) presumably has a gain-of-function effect as described in a previous report. More... »

PAGES

207-211

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-017-0365-z

DOI

http://dx.doi.org/10.1038/s10038-017-0365-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1095860615

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29208948


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0601", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biochemistry and Cell Biology", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Substitution", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ataxia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Excitatory Amino Acid Transporter 1", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Models, Molecular", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation, Missense", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
            "Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Iwama", 
        "givenName": "Kazuhiro", 
        "id": "sg:person.013442313451.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013442313451.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Kobe City Nishi-Kobe Medical Center, 5-7-1 Kojidai, 651-2273, Nishi-ku, Kobe, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416289.0", 
          "name": [
            "Department of Pediatrics, Kobe City Nishi-Kobe Medical Center, 5-7-1 Kojidai, 651-2273, Nishi-ku, Kobe, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Iwata", 
        "givenName": "Aya", 
        "id": "sg:person.01303527617.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303527617.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shiina", 
        "givenName": "Masaaki", 
        "id": "sg:person.01256113406.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256113406.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mitsuhashi", 
        "givenName": "Satomi", 
        "id": "sg:person.01277303054.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277303054.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.470126.6", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
            "Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyatake", 
        "givenName": "Satoko", 
        "id": "sg:person.0661323161.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661323161.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Takata", 
        "givenName": "Atsushi", 
        "id": "sg:person.0676115342.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676115342.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyake", 
        "givenName": "Noriko", 
        "id": "sg:person.01027727764.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogata", 
        "givenName": "Kazuhiro", 
        "id": "sg:person.0737306417.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737306417.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.470126.6", 
          "name": [
            "Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
            "Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ito", 
        "givenName": "Shuichi", 
        "id": "sg:person.012302533312.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012302533312.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mizuguchi", 
        "givenName": "Takeshi", 
        "id": "sg:person.01213474560.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213474560.37"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Matsumoto", 
        "givenName": "Naomichi", 
        "id": "sg:person.01020376771.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nature03018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012685028", 
          "https://doi.org/10.1038/nature03018"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2013.173", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052862129", 
          "https://doi.org/10.1038/ejhg.2013.173"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2015.053", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001304490", 
          "https://doi.org/10.1038/nprot.2015.053"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nsmb.2663", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004712673", 
          "https://doi.org/10.1038/nsmb.2663"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2016.137", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021546909", 
          "https://doi.org/10.1038/jhg.2016.137"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.3703", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046660279", 
          "https://doi.org/10.1038/ng.3703"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2015.30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022229472", 
          "https://doi.org/10.1038/gim.2015.30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10048-016-0486-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027426016", 
          "https://doi.org/10.1007/s10048-016-0486-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2016.9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003493477", 
          "https://doi.org/10.1038/jhg.2016.9"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-12-05", 
    "datePublishedReg": "2017-12-05", 
    "description": "Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c.383T>G (p.Met128Arg) in SLC1A3, in an EA patient by whole-exome sequencing. The modeled structural analysis suggested that p.Met128Arg may affect the hydrophobic transmembrane environment and protein function. Analysis of the pathogenicity of all mutations found in SLC1A3 to date using multiple prediction tools showed some advantage of using the Mendelian Clinically Applicable Pathogenicity (M-CAP) score. Various types of SLC1A3 variants, including nonsense mutations and indels, in the ExAC database suggest that the loss-of-function mechanism by SLC1A3 mutations is unlikely in EA6. The current mutation (p.Med128Arg) presumably has a gain-of-function effect as described in a previous report.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/s10038-017-0365-z", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.5901650", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6819771", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7702180", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6841052", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5907324", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1294984", 
        "issn": [
          "1434-5161", 
          "1435-232X"
        ], 
        "name": "Journal of Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "63"
      }
    ], 
    "keywords": [
      "excitatory amino-acid transporter 1", 
      "missense mutations", 
      "trimeric transmembrane protein", 
      "whole-exome sequencing", 
      "episodic ataxia", 
      "transmembrane protein", 
      "protein function", 
      "novel missense mutation", 
      "pathogenicity scores", 
      "member 3 gene", 
      "multiple prediction tools", 
      "nonsense mutation", 
      "mutations", 
      "function mechanism", 
      "current mutation", 
      "SLC1A3", 
      "genes", 
      "ExAC database", 
      "glutamate transport", 
      "novel mutations", 
      "transporter 1", 
      "function effects", 
      "synaptic cleft", 
      "EA6", 
      "indels", 
      "structural analysis", 
      "sequencing", 
      "protein", 
      "recurrent ataxia", 
      "pathogenicity", 
      "prediction tools", 
      "channelopathies", 
      "previous reports", 
      "ataxia", 
      "variants", 
      "cleft", 
      "rare channelopathy", 
      "mechanism", 
      "date", 
      "transport", 
      "analysis", 
      "function", 
      "subtypes", 
      "loss", 
      "environment", 
      "types", 
      "tool", 
      "study", 
      "effect", 
      "database", 
      "report", 
      "gain", 
      "advantages", 
      "EA patients", 
      "patients", 
      "scores", 
      "vertigo", 
      "Solute Carrier Family 1 Member 3 gene", 
      "Carrier Family 1 Member 3 gene", 
      "Family 1 Member 3 gene", 
      "amino-acid transporter 1", 
      "Met128Arg", 
      "hydrophobic transmembrane environment", 
      "transmembrane environment", 
      "Mendelian Clinically Applicable Pathogenicity (M-CAP) score", 
      "Clinically Applicable Pathogenicity (M-CAP) score", 
      "Applicable Pathogenicity (M-CAP) score", 
      "SLC1A3 variants", 
      "SLC1A3 mutations", 
      "SLC1A3 causes episodic ataxia", 
      "causes episodic ataxia"
    ], 
    "name": "A novel mutation in SLC1A3 causes episodic ataxia", 
    "pagination": "207-211", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1095860615"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s10038-017-0365-z"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29208948"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s10038-017-0365-z", 
      "https://app.dimensions.ai/details/publication/pub.1095860615"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-12-01T19:41", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_751.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/s10038-017-0365-z"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s10038-017-0365-z'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s10038-017-0365-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s10038-017-0365-z'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s10038-017-0365-z'


 

This table displays all metadata directly associated to this object as RDF triples.

293 TRIPLES      22 PREDICATES      114 URIs      97 LITERALS      15 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s10038-017-0365-z schema:about N1be762a82e2e4cc9a74d49c764a8a96c
2 N39b57a83f67a48ffb3e3d4a5cd92943e
3 N616ec1d036ea4c019ff840caa8a0e8c6
4 N711d69a716a14cab94b855fd3ca05b3a
5 N8be4bbe2a11c49278886c367d62f26dd
6 N8fc0fe34798d48b784cda73bcc261336
7 N9cac7d17b1b54b5c8515b19a52c15996
8 Nd1f253bbce7442c7ae740f8ba87af15e
9 anzsrc-for:06
10 anzsrc-for:0601
11 schema:author N8f71a93daf81480b8d30c0023fa83f9d
12 schema:citation sg:pub.10.1007/s10048-016-0486-0
13 sg:pub.10.1038/ejhg.2013.173
14 sg:pub.10.1038/gim.2015.30
15 sg:pub.10.1038/jhg.2016.137
16 sg:pub.10.1038/jhg.2016.9
17 sg:pub.10.1038/nature03018
18 sg:pub.10.1038/ng.3703
19 sg:pub.10.1038/nprot.2015.053
20 sg:pub.10.1038/nsmb.2663
21 schema:datePublished 2017-12-05
22 schema:datePublishedReg 2017-12-05
23 schema:description Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c.383T>G (p.Met128Arg) in SLC1A3, in an EA patient by whole-exome sequencing. The modeled structural analysis suggested that p.Met128Arg may affect the hydrophobic transmembrane environment and protein function. Analysis of the pathogenicity of all mutations found in SLC1A3 to date using multiple prediction tools showed some advantage of using the Mendelian Clinically Applicable Pathogenicity (M-CAP) score. Various types of SLC1A3 variants, including nonsense mutations and indels, in the ExAC database suggest that the loss-of-function mechanism by SLC1A3 mutations is unlikely in EA6. The current mutation (p.Med128Arg) presumably has a gain-of-function effect as described in a previous report.
24 schema:genre article
25 schema:inLanguage en
26 schema:isAccessibleForFree false
27 schema:isPartOf Na8f59ec3c468433a815f826c71b09b4c
28 Nbb8cec8091ad4cdcba37a0c65234f19a
29 sg:journal.1294984
30 schema:keywords Applicable Pathogenicity (M-CAP) score
31 Carrier Family 1 Member 3 gene
32 Clinically Applicable Pathogenicity (M-CAP) score
33 EA patients
34 EA6
35 ExAC database
36 Family 1 Member 3 gene
37 Mendelian Clinically Applicable Pathogenicity (M-CAP) score
38 Met128Arg
39 SLC1A3
40 SLC1A3 causes episodic ataxia
41 SLC1A3 mutations
42 SLC1A3 variants
43 Solute Carrier Family 1 Member 3 gene
44 advantages
45 amino-acid transporter 1
46 analysis
47 ataxia
48 causes episodic ataxia
49 channelopathies
50 cleft
51 current mutation
52 database
53 date
54 effect
55 environment
56 episodic ataxia
57 excitatory amino-acid transporter 1
58 function
59 function effects
60 function mechanism
61 gain
62 genes
63 glutamate transport
64 hydrophobic transmembrane environment
65 indels
66 loss
67 mechanism
68 member 3 gene
69 missense mutations
70 multiple prediction tools
71 mutations
72 nonsense mutation
73 novel missense mutation
74 novel mutations
75 pathogenicity
76 pathogenicity scores
77 patients
78 prediction tools
79 previous reports
80 protein
81 protein function
82 rare channelopathy
83 recurrent ataxia
84 report
85 scores
86 sequencing
87 structural analysis
88 study
89 subtypes
90 synaptic cleft
91 tool
92 transmembrane environment
93 transmembrane protein
94 transport
95 transporter 1
96 trimeric transmembrane protein
97 types
98 variants
99 vertigo
100 whole-exome sequencing
101 schema:name A novel mutation in SLC1A3 causes episodic ataxia
102 schema:pagination 207-211
103 schema:productId N3dc4c4a5cc354286b4af3dc95719c020
104 N62abf1d3475544b6a95c8e4c6485049d
105 Nbae4ed34a9804a9e9d2d10c1c70d88fe
106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1095860615
107 https://doi.org/10.1038/s10038-017-0365-z
108 schema:sdDatePublished 2021-12-01T19:41
109 schema:sdLicense https://scigraph.springernature.com/explorer/license/
110 schema:sdPublisher N36287dea8a4b49d49fb35abc233af5ff
111 schema:url https://doi.org/10.1038/s10038-017-0365-z
112 sgo:license sg:explorer/license/
113 sgo:sdDataset articles
114 rdf:type schema:ScholarlyArticle
115 N156159e5288a4b49a742d2f9427141ca rdf:first sg:person.0737306417.00
116 rdf:rest N7169ae5be0924a4f8444667144194fc5
117 N1be762a82e2e4cc9a74d49c764a8a96c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Models, Molecular
119 rdf:type schema:DefinedTerm
120 N1c825f69528d49b8ae6a83eb8030fb17 rdf:first sg:person.01027727764.75
121 rdf:rest N156159e5288a4b49a742d2f9427141ca
122 N2798256202bf40b7a78bdd02872dc055 rdf:first sg:person.01213474560.37
123 rdf:rest N41f7a505a7b54db48cea9276cc096fe1
124 N36287dea8a4b49d49fb35abc233af5ff schema:name Springer Nature - SN SciGraph project
125 rdf:type schema:Organization
126 N39b57a83f67a48ffb3e3d4a5cd92943e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Ataxia
128 rdf:type schema:DefinedTerm
129 N3dc4c4a5cc354286b4af3dc95719c020 schema:name dimensions_id
130 schema:value pub.1095860615
131 rdf:type schema:PropertyValue
132 N41f7a505a7b54db48cea9276cc096fe1 rdf:first sg:person.01020376771.12
133 rdf:rest rdf:nil
134 N51980f9f57844bbd9bf04726d48e55c5 rdf:first sg:person.0676115342.30
135 rdf:rest N1c825f69528d49b8ae6a83eb8030fb17
136 N616ec1d036ea4c019ff840caa8a0e8c6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Amino Acid Substitution
138 rdf:type schema:DefinedTerm
139 N62abf1d3475544b6a95c8e4c6485049d schema:name doi
140 schema:value 10.1038/s10038-017-0365-z
141 rdf:type schema:PropertyValue
142 N686feb0f306046989aa36472c2346fe9 rdf:first sg:person.01277303054.11
143 rdf:rest Nd10d9133f5a5490fabdc49729e35e406
144 N711d69a716a14cab94b855fd3ca05b3a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
145 schema:name Excitatory Amino Acid Transporter 1
146 rdf:type schema:DefinedTerm
147 N7169ae5be0924a4f8444667144194fc5 rdf:first sg:person.012302533312.63
148 rdf:rest N2798256202bf40b7a78bdd02872dc055
149 N8be4bbe2a11c49278886c367d62f26dd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Humans
151 rdf:type schema:DefinedTerm
152 N8f71a93daf81480b8d30c0023fa83f9d rdf:first sg:person.013442313451.40
153 rdf:rest N94f034176e3545fb81df66adf35d2499
154 N8fc0fe34798d48b784cda73bcc261336 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Mutation, Missense
156 rdf:type schema:DefinedTerm
157 N94f034176e3545fb81df66adf35d2499 rdf:first sg:person.01303527617.27
158 rdf:rest N9e46aba24a60465bbdc978ccf4193727
159 N9cac7d17b1b54b5c8515b19a52c15996 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Child
161 rdf:type schema:DefinedTerm
162 N9e46aba24a60465bbdc978ccf4193727 rdf:first sg:person.01256113406.31
163 rdf:rest N686feb0f306046989aa36472c2346fe9
164 Na8f59ec3c468433a815f826c71b09b4c schema:issueNumber 2
165 rdf:type schema:PublicationIssue
166 Nbae4ed34a9804a9e9d2d10c1c70d88fe schema:name pubmed_id
167 schema:value 29208948
168 rdf:type schema:PropertyValue
169 Nbb8cec8091ad4cdcba37a0c65234f19a schema:volumeNumber 63
170 rdf:type schema:PublicationVolume
171 Nd10d9133f5a5490fabdc49729e35e406 rdf:first sg:person.0661323161.22
172 rdf:rest N51980f9f57844bbd9bf04726d48e55c5
173 Nd1f253bbce7442c7ae740f8ba87af15e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
174 schema:name Male
175 rdf:type schema:DefinedTerm
176 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
177 schema:name Biological Sciences
178 rdf:type schema:DefinedTerm
179 anzsrc-for:0601 schema:inDefinedTermSet anzsrc-for:
180 schema:name Biochemistry and Cell Biology
181 rdf:type schema:DefinedTerm
182 sg:grant.5901650 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-017-0365-z
183 rdf:type schema:MonetaryGrant
184 sg:grant.5907324 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-017-0365-z
185 rdf:type schema:MonetaryGrant
186 sg:grant.6819771 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-017-0365-z
187 rdf:type schema:MonetaryGrant
188 sg:grant.6841052 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-017-0365-z
189 rdf:type schema:MonetaryGrant
190 sg:grant.7702180 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-017-0365-z
191 rdf:type schema:MonetaryGrant
192 sg:journal.1294984 schema:issn 1434-5161
193 1435-232X
194 schema:name Journal of Human Genetics
195 schema:publisher Springer Nature
196 rdf:type schema:Periodical
197 sg:person.01020376771.12 schema:affiliation grid-institutes:grid.268441.d
198 schema:familyName Matsumoto
199 schema:givenName Naomichi
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12
201 rdf:type schema:Person
202 sg:person.01027727764.75 schema:affiliation grid-institutes:grid.268441.d
203 schema:familyName Miyake
204 schema:givenName Noriko
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75
206 rdf:type schema:Person
207 sg:person.01213474560.37 schema:affiliation grid-institutes:grid.268441.d
208 schema:familyName Mizuguchi
209 schema:givenName Takeshi
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01213474560.37
211 rdf:type schema:Person
212 sg:person.012302533312.63 schema:affiliation grid-institutes:grid.470126.6
213 schema:familyName Ito
214 schema:givenName Shuichi
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012302533312.63
216 rdf:type schema:Person
217 sg:person.01256113406.31 schema:affiliation grid-institutes:grid.268441.d
218 schema:familyName Shiina
219 schema:givenName Masaaki
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01256113406.31
221 rdf:type schema:Person
222 sg:person.01277303054.11 schema:affiliation grid-institutes:grid.268441.d
223 schema:familyName Mitsuhashi
224 schema:givenName Satomi
225 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277303054.11
226 rdf:type schema:Person
227 sg:person.01303527617.27 schema:affiliation grid-institutes:grid.416289.0
228 schema:familyName Iwata
229 schema:givenName Aya
230 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01303527617.27
231 rdf:type schema:Person
232 sg:person.013442313451.40 schema:affiliation grid-institutes:grid.268441.d
233 schema:familyName Iwama
234 schema:givenName Kazuhiro
235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013442313451.40
236 rdf:type schema:Person
237 sg:person.0661323161.22 schema:affiliation grid-institutes:grid.470126.6
238 schema:familyName Miyatake
239 schema:givenName Satoko
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0661323161.22
241 rdf:type schema:Person
242 sg:person.0676115342.30 schema:affiliation grid-institutes:grid.268441.d
243 schema:familyName Takata
244 schema:givenName Atsushi
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0676115342.30
246 rdf:type schema:Person
247 sg:person.0737306417.00 schema:affiliation grid-institutes:grid.268441.d
248 schema:familyName Ogata
249 schema:givenName Kazuhiro
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0737306417.00
251 rdf:type schema:Person
252 sg:pub.10.1007/s10048-016-0486-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027426016
253 https://doi.org/10.1007/s10048-016-0486-0
254 rdf:type schema:CreativeWork
255 sg:pub.10.1038/ejhg.2013.173 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052862129
256 https://doi.org/10.1038/ejhg.2013.173
257 rdf:type schema:CreativeWork
258 sg:pub.10.1038/gim.2015.30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022229472
259 https://doi.org/10.1038/gim.2015.30
260 rdf:type schema:CreativeWork
261 sg:pub.10.1038/jhg.2016.137 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021546909
262 https://doi.org/10.1038/jhg.2016.137
263 rdf:type schema:CreativeWork
264 sg:pub.10.1038/jhg.2016.9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003493477
265 https://doi.org/10.1038/jhg.2016.9
266 rdf:type schema:CreativeWork
267 sg:pub.10.1038/nature03018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012685028
268 https://doi.org/10.1038/nature03018
269 rdf:type schema:CreativeWork
270 sg:pub.10.1038/ng.3703 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046660279
271 https://doi.org/10.1038/ng.3703
272 rdf:type schema:CreativeWork
273 sg:pub.10.1038/nprot.2015.053 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001304490
274 https://doi.org/10.1038/nprot.2015.053
275 rdf:type schema:CreativeWork
276 sg:pub.10.1038/nsmb.2663 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004712673
277 https://doi.org/10.1038/nsmb.2663
278 rdf:type schema:CreativeWork
279 grid-institutes:grid.268441.d schema:alternateName Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
280 Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
281 Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
282 schema:name Department of Biochemistry, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
283 Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
284 Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
285 rdf:type schema:Organization
286 grid-institutes:grid.416289.0 schema:alternateName Department of Pediatrics, Kobe City Nishi-Kobe Medical Center, 5-7-1 Kojidai, 651-2273, Nishi-ku, Kobe, Japan
287 schema:name Department of Pediatrics, Kobe City Nishi-Kobe Medical Center, 5-7-1 Kojidai, 651-2273, Nishi-ku, Kobe, Japan
288 rdf:type schema:Organization
289 grid-institutes:grid.470126.6 schema:alternateName Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
290 schema:name Clinical Genetics Department, Yokohama City University Hospital, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
291 Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
292 Department of Pediatrics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, 236-0004, Kanazawa-ku, Yokohama, Japan
293 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...