LOCUS       NM_000069               6028 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 S
            (CACNA1S), mRNA.
ACCESSION   NM_000069
VERSION     NM_000069.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6028)
  AUTHORS   Pelizzari,S., Heiss,M.C., Fernandez-Quintero,M.L., El Ghaleb,Y.,
            Liedl,K.R., Tuluc,P., Campiglio,M. and Flucher,B.E.
  TITLE     CaV1.1 voltage-sensing domain III exclusively controls skeletal
            muscle excitation-contraction coupling
  JOURNAL   Nat Commun 15 (1), 7440 (2024)
   PUBMED   39198449
  REMARK    GeneRIF: CaV1.1 voltage-sensing domain III exclusively controls
            skeletal muscle excitation-contraction coupling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 6028)
  AUTHORS   Seed,E., Noon,F., Milnes,D., Roscioli,T., Kristensen,K., Ellwood,D.
            and DaSilva Costa,F.
  TITLE     Biallellic variants in CACNA1S cause fetal akinesia sequence,
            progressive hydrops and stillbirth
  JOURNAL   Prenat Diagn 43 (13), 1678-1681 (2023)
   PUBMED   38111203
  REMARK    GeneRIF: Biallellic variants in CACNA1S cause fetal akinesia
            sequence, progressive hydrops and stillbirth.
REFERENCE   3  (bases 1 to 6028)
  AUTHORS   Periviita,V., Palmio,J., Jokela,M., Hartikainen,P., Vihola,A.,
            Rauramaa,T. and Udd,B.
  TITLE     CACNA1S Variant Associated With a Myalgic Myopathy Phenotype
  JOURNAL   Neurology 101 (18), e1779-e1786 (2023)
   PUBMED   37679049
  REMARK    GeneRIF: CACNA1S Variant Associated With a Myalgic Myopathy
            Phenotype.
REFERENCE   4  (bases 1 to 6028)
  AUTHORS   Marinella,G., Orsini,A., Scacciati,M., Costa,E., Santangelo,A.,
            Astrea,G., Frosini,S., Pasquariello,R., Rubegni,A., Sgherri,G.,
            Corsi,M., Bonuccelli,A. and Battini,R.
  TITLE     Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene
            Mutation: Case Report and Systematic Review of the Literature
  JOURNAL   Genes (Basel) 14 (7), 1363 (2023)
   PUBMED   37510268
  REMARK    GeneRIF: Congenital Myopathy as a Phenotypic Expression of CACNA1S
            Gene Mutation: Case Report and Systematic Review of the Literature.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6028)
  AUTHORS   Hogan,K., Powers,P.A. and Gregg,R.G.
  TITLE     Cloning of the human skeletal muscle alpha 1 subunit of the
            dihydropyridine-sensitive L-type calcium channel (CACNL1A3)
  JOURNAL   Genomics 24 (3), 608-609 (1994)
   PUBMED   7713519
REFERENCE   6  (bases 1 to 6028)
  AUTHORS   Weber,F. and Lehmann-Horn,F.
  TITLE     Hypokalemic Periodic Paralysis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301512
REFERENCE   7  (bases 1 to 6028)
  AUTHORS   Rosenberg,H., Sambuughin,N., Riazi,S. and Dirksen,R.
  TITLE     Malignant Hyperthermia Susceptibility
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301325
REFERENCE   8  (bases 1 to 6028)
  AUTHORS   Rotman,E.I., De Jongh,K.S., Florio,V., Lai,Y. and Catterall,W.A.
  TITLE     Specific phosphorylation of a COOH-terminal site on the full-length
            form of the alpha 1 subunit of the skeletal muscle calcium channel
            by cAMP-dependent protein kinase
  JOURNAL   J Biol Chem 267 (23), 16100-16105 (1992)
   PUBMED   1322891
REFERENCE   9  (bases 1 to 6028)
  AUTHORS   Rohrkasten,A., Meyer,H.E., Nastainczyk,W., Sieber,M. and Hofmann,F.
  TITLE     cAMP-dependent protein kinase rapidly phosphorylates serine- 687 of
            the skeletal muscle receptor for calcium channel blockers
  JOURNAL   J Biol Chem 263 (30), 15325-15329 (1988)
   PUBMED   2844809
REFERENCE   10 (bases 1 to 6028)
  AUTHORS   Tanabe,T., Takeshima,H., Mikami,A., Flockerzi,V., Takahashi,H.,
            Kangawa,K., Kojima,M., Matsuo,H., Hirose,T. and Numa,S.
  TITLE     Primary structure of the receptor for calcium channel blockers from
            skeletal muscle
  JOURNAL   Nature 328 (6128), 313-318 (1987)
   PUBMED   3037387
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139159.10 and AL358473.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000069.2.
            
            Summary: This gene encodes one of the five subunits of the slowly
            inactivating L-type voltage-dependent calcium channel in skeletal
            muscle cells. Mutations in this gene have been associated with
            hypokalemic periodic paralysis, thyrotoxic periodic paralysis and
            malignant hyperthermia susceptibility. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC133671.1, L33798.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000362061.4/ ENSP00000355192.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-239               AL139159.10        52973-53211         c
            240-345             AL139159.10        50949-51054         c
            346-485             AL139159.10        34667-34806         c
            486-628             AL139159.10        32757-32899         c
            629-781             AL139159.10        32425-32577         c
            782-987             AL139159.10        30043-30248         c
            988-1091            AL139159.10        28611-28714         c
            1092-1237           AL139159.10        26221-26366         c
            1238-1319           AL139159.10        25735-25816         c
            1320-1480           AL139159.10        23947-24107         c
            1481-1706           AL139159.10        18664-18889         c
            1707-1914           AL139159.10        17705-17912         c
            1915-2035           AL139159.10        16280-16400         c
            2036-2150           AL139159.10        15291-15405         c
            2151-2244           AL139159.10        14334-14427         c
            2245-2314           AL139159.10        13540-13609         c
            2315-2447           AL139159.10        11057-11189         c
            2448-2577           AL139159.10        10257-10386         c
            2578-2637           AL139159.10        9922-9981           c
            2638-2744           AL139159.10        7672-7778           c
            2745-2832           AL139159.10        7014-7101           c
            2833-2940           AL139159.10        6623-6730           c
            2941-2993           AL139159.10        3247-3299           c
            2994-3140           AL139159.10        2729-2875           c
            3141-3342           AL139159.10        2052-2253           c
            3343-3501           AL358473.10        77477-77635         c
            3502-3612           AL358473.10        76008-76118         c
            3613-3696           AL358473.10        75227-75310         c
            3697-3753           AL358473.10        71324-71380         c
            3754-3882           AL358473.10        70278-70406         c
            3883-3948           AL358473.10        70028-70093         c
            3949-4040           AL358473.10        69376-69467         c
            4041-4200           AL358473.10        67803-67962         c
            4201-4328           AL358473.10        67208-67335         c
            4329-4425           AL358473.10        65822-65918         c
            4426-4528           AL358473.10        65401-65503         c
            4529-4630           AL358473.10        64344-64445         c
            4631-4755           AL358473.10        63934-64058         c
            4756-4884           AL358473.10        61147-61275         c
            4885-5135           AL358473.10        60100-60350         c
            5136-5221           AL358473.10        58323-58408         c
            5222-5313           AL358473.10        57441-57532         c
            5314-5457           AL358473.10        57050-57193         c
            5458-6028           AL358473.10        56331-56901         c
FEATURES             Location/Qualifiers
     source          1..6028
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..6028
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="calcium voltage-gated channel subunit alpha1 S"
                     /db_xref="GeneID:779"
                     /db_xref="HGNC:HGNC:1397"
                     /db_xref="MIM:114208"
     exon            1..239
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..5709
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="voltage-gated calcium channel subunit alpha Cav1.1;
                     dihydropyridine-sensitive L-type calcium channel alpha-1
                     subunit; calcium channel, voltage-dependent, L type, alpha
                     1S subunit; dihydropyridine receptor alpha 1 subunit"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1S"
                     /protein_id="NP_000060.2"
                     /db_xref="CCDS:CCDS1407.1"
                     /db_xref="GeneID:779"
                     /db_xref="HGNC:HGNC:1397"
                     /db_xref="MIM:114208"
                     /translation="MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKAC
                     ISIVEWKPFETIILLTIFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAA
                     MKIIAYGFLFHQDAYLRSGWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLD
                     VKALRAFRVLRPLRLVSGVPSLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELF
                     KGKMHKTCYFIGTDIVATVENEEPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFD
                     NFGFSMLTVYQCITMEGWTDVLYWVNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLS
                     GEFTKEREKAKSRGTFQKLREKQQLDEDLRGYMSWITQGEVMDVEDFREGKLSLDEGG
                     SDTESLYEIAGLNKIIQFIRHWRQWNRIFRWKCHDIVKSKVFYWLVILIVALNTLSIA
                     SEHHNQPLWLTRLQDIANRVLLSLFTTEMLMKMYGLGLRQYFMSIFNRFDCFVVCSGI
                     LEILLVESGAMTPLGISVLRCIRLLRIFKITKYWTSLSNLVASLLNSIRSIASLLLLL
                     FLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNFPQALISVFQVLTGEDWTSMMYNGI
                     MAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIAVDNLAEAESLTSAQKAKAEEKK
                     RRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKLKIDEFESNVNEVKDPYPSAD
                     FPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFFIFSPTNKIRVLCHRIVNA
                     TWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFTSVFTVEIVLKMTTYGA
                     FLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLRVLRPLRAINRAKGL
                     KHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDLSKMTEEECRGYY
                     YVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLLYKAIDSNAED
                     VGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCELDKNQRQC
                     VQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHYNQSEQM
                     NHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILSEIDT
                     FLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTFIK
                     SFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
                     TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVA
                     VIMDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFG
                     KFCPHRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAII
                     KKIWKRTSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDI
                     VQIQAGLRTIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDN
                     FLERTNSLPPVMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANV
                     AYGNSNHSNSHVFSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLL
                     TQRAMPRGQAPPAPCQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPAT
                     ALLIQKALVRGGLGTLAADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGM
                     ASSLGCLNLGSSLGSLDQHQGSQETLIPPRL"
     exon            240..345
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            346..485
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            486..628
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            629..781
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            782..987
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1091
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1092..1237
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1319
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1320..1480
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1706
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1707..1914
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..2035
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..2150
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..2244
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2245..2314
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2315..2447
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2448..2577
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2578..2637
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2638..2744
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2745..2832
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2833..2940
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2941..2993
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2994..3140
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3141..3342
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3343..3501
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3502..3612
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3613..3696
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3697..3753
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3754..3882
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3883..3948
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            3949..4040
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4041..4200
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4201..4328
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4329..4425
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4426..4528
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4529..4630
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4631..4755
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4756..4884
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            4885..5135
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            5136..5221
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            5222..5313
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            5314..5457
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            5458..6028
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5998..6003
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="hexamer: ATTAAA"
     polyA_site      6028
                     /gene="CACNA1S"
                     /gene_synonym="CACNL1A3; Cav1.1; CCHL1A3; CMYO18; CMYP18;
                     DHPRM; HOKPP; HOKPP1; hypoPP; MHS5; TTPP1"
                     /note="major polyA site"
ORIGIN      
        1 agtccccaag gcgggggcat tggggacaca gggaagggaa agcactgggg tgggggagca
       61 ggagaaagcc agattcccag ggaagccatg gagccatcct caccccagga tgaaggcctg
      121 aggaagaaac agcccaagaa gccagttcct gagattctgc caaggccacc ccgggccttg
      181 ttctgcctga ccctggagaa ccccctgagg aaggcctgca tcagcattgt agaatggaag
      241 cccttcgaga cgatcatctt gctcaccatc tttgccaatt gtgtggccct ggccgtgtac
      301 ctgcccatgc cggaagatga caacaactct ctgaacctcg gcctggagaa gctggagtat
      361 ttcttcctca ttgtcttctc gattgaagcc gccatgaaga tcattgccta cggcttctta
      421 ttccaccagg acgcttacct gcgcagtggc tggaatgtgc tggacttcac cattgtcttc
      481 ctgggggtct tcaccgtgat tctggaacag gttaacgtca tccaaagcca cacagcccca
      541 atgagcagca aaggagccgg cttggatgtc aaggccctca gagccttccg agtgctcaga
      601 cccctccggc tggtgtcggg ggtgcctagc ctgcaggtgg tcctgaactc catcttcaag
      661 gccatgctcc ccctctttca catcgccctg ctggtcctct ttatggtcat catctatgcc
      721 atcatcgggc tggagctctt caagggcaag atgcacaaga cctgctactt cattggtaca
      781 gatatcgtgg ccacggtgga gaatgaagag ccatcgccct gcgccaggac gggctcaggg
      841 cgccggtgca ccatcaatgg cagtgagtgc cggggcggct ggccagggcc caaccatggc
      901 atcacccact tcgacaactt cggcttctcc atgctcaccg tgtaccagtg cattaccatg
      961 gagggatgga ctgacgtcct ttactgggtc aatgatgcca tcgggaatga gtggccctgg
     1021 atctattttg tcaccctcat tttgctggga tccttcttca tcctcaacct ggtgctgggt
     1081 gtcctgagtg gggaattcac caaggagcgg gagaaggcca agtccagggg aaccttccag
     1141 aagctccggg agaagcagca actagatgag gaccttcggg gctacatgag ctggatcacg
     1201 cagggcgagg tcatggatgt tgaggacttc agagaaggaa aactgtcttt ggatgaaggt
     1261 ggctctgaca cagagagcct gtatgaaatt gcaggcttga acaaaatcat ccagttcatc
     1321 cgacattgga ggcagtggaa ccgcatcttt cgctggaagt gccatgacat cgtgaagtcc
     1381 aaggtcttct attggctggt gattctcatc gttgccctca acaccctgtc tatcgcctca
     1441 gagcaccaca accagcctct ctggctgacc cgtttgcaag acattgccaa ccgggtgctg
     1501 ctgtccctct tcaccactga gatgctgatg aagatgtacg ggctgggcct gcgccagtac
     1561 ttcatgtcta tcttcaaccg cttcgactgc ttcgtggtgt gtagcggtat cctggagatc
     1621 ctgctggtgg agtcgggtgc catgacaccc ctgggcatct ccgtgctccg ctgcatccgc
     1681 ctcctgagga tcttcaagat caccaaatat tggacgtcgc tgagcaacct ggtggcatcc
     1741 ctgctcaact ccatccgctc catcgcctcc ctgctgctgc tgctcttcct cttcatcgtc
     1801 atcttcgccc tcctgggcat gcagctcttt ggggggaggt atgactttga agacacagaa
     1861 gtacggcgca gcaactttga caactttccc caagccctca tcagcgtctt ccaggtactg
     1921 acaggggaag actggacctc aatgatgtac aatgggatca tggcctacgg cgggccgtcc
     1981 taccctggca tgcttgtgtg catttacttc atcatccttt tcgtctgtgg caactacatc
     2041 ctgctcaatg tcttcctggc cattgccgtg gacaacctgg ccgaggcgga gagcctgact
     2101 tctgcccaga aggccaaggc tgaggagaaa aaacgcagga agatgtccaa gggtctccca
     2161 gacaagtcag aagaggagaa gtcaacgatg gccaagaagc tggagcagaa acccaagggt
     2221 gagggcatcc ccaccactgc caagctgaaa atcgatgagt ttgaatctaa tgtcaatgag
     2281 gtgaaggatc cctacccctc agccgacttc ccaggggatg acgaggaaga tgagcctgag
     2341 atcccgctga gcccccgacc acgtcccctg gctgagctgc agctgaaaga gaaggccgtg
     2401 cccattccag aagccagctc cttcttcatc ttcagcccca ccaataagat ccgtgtcctg
     2461 tgtcaccgca tcgtcaatgc cacctggttt accaacttca tcctgctctt catcctgctc
     2521 agcagcgctg cactggctgc ggaagacccc atccgggctg attccatgag aaatcagatc
     2581 cttaaacact ttgacatcgg gttcacctct gtcttcactg tggagattgt cctcaagatg
     2641 acgacctacg gagccttcct gcacaagggt tccttctgcc gcaattactt caacatgctg
     2701 gacctgctgg tggtggccgt gtccctcatc tccatgggac ttgagtccag tgccatctcc
     2761 gtggtgaaga tcctgagggt gctgagggtg ctccgaccac tcagagccat caacagagcc
     2821 aaggggttga agcacgtggt gcagtgcatg ttcgtggcca tcagcaccat cgggaacatc
     2881 gtgctggtca ctaccctcct acagttcatg tttgcctgca tcggcgtcca gctcttcaag
     2941 gggaagttct tcaggtgcac cgacttgtcc aagatgacag aggaggagtg caggggctac
     3001 tactacgtgt acaaggacgg ggaccccatg cagatagagc tgcgtcaccg cgagtgggta
     3061 cacagcgact tccacttcga caatgtgctc tcagccatga tgtccctctt cacggtctcc
     3121 accttcgagg gatggcctca gctgctgtac aaggccatag actccaatgc ggaggacgtg
     3181 ggtcccatct acaacaaccg tgtggagatg gccatcttct tcatcatcta catcatcctc
     3241 attgccttct tcatgatgaa catctttgtg ggcttcgtca ttgtcacctt ccaggagcag
     3301 ggagagactg agtacaagaa ctgtgagctg gacaagaacc agcgccaatg tgtacagtat
     3361 gccctgaagg cccgcccact gaggtgctac attcccaaaa acccatacca gtaccaggtg
     3421 tggtacattg tcacctcctc ctactttgaa tacctgatgt ttgccctcat catgctcaac
     3481 accatctgcc tcggcatgca gcactacaac cagtcggagc agatgaacca catctcagac
     3541 atcctcaatg tggccttcac tatcatcttc accctggaga tgatcctcaa gctcatggcc
     3601 ttcaaggcca ggggctactt tggagacccc tggaatgtgt ttgacttcct gattgtcatt
     3661 ggcagcatca ttgatgtcat cctcagtgag atcgacactt tcctggcctc cagcggggga
     3721 ctgtattgcc tgggtggagg ctgcgggaac gttgacccag atgagagtgc ccgcatctcc
     3781 agcgccttct tccgcctgtt ccgtgtcatg aggctgatca agctgctgag ccgggcagaa
     3841 ggagtgcgaa ccctcctgtg gacgttcatc aagtccttcc aggccctacc ctacgtggct
     3901 ctgctcatcg tcatgctctt cttcatctac gctgtcatcg gcatgcagat gtttgggaag
     3961 atcgccttgg tggatgggac ccaaataaac cggaacaaca acttccagac cttcccacaa
     4021 gctgtgctac tgctcttcag gtgtgcaaca ggtgaggcct ggcaggagat cctactggcc
     4081 tgcagctatg ggaagctgtg tgacccagag tcggactatg ccccagggga ggagtacaca
     4141 tgtggcacca actttgcata ctactacttc atcagcttct acatgctctg tgccttcctg
     4201 gtcatcaacc tctttgtggc tgtcatcatg gacaattttg actacctcac ccgggactgg
     4261 tccatcctgg gccctcatca cctggatgag ttcaaggcca tctgggcaga gtatgaccca
     4321 gaggctaagg ggagaatcaa acacctggac gtggtgaccc tgctgagaag gattcagccc
     4381 cctctgggct ttgggaagtt ctgcccacat cgggtagctt gtaagcggct ggtgggcatg
     4441 aacatgcccc tgaacagcga cggcacagtc accttcaatg ccacactctt tgccctggtc
     4501 cgcacggcac tcaagatcaa gacggaaggt aactttgagc aggccaacga ggagctgagg
     4561 gccatcatca agaagatctg gaagagaacc agcatgaagc tcttggacca ggtcatccct
     4621 ccaataggag atgatgaggt gacagtgggg aagttctacg ccacattcct catccaggag
     4681 cacttccgga agttcatgaa acgccaagag gagtattatg gctatcggcc caagaaggac
     4741 attgtacaga tccaggcagg gctgcggacc attgaggaag aggcagcccc cgagatctgt
     4801 cgcacggtct caggagacct ggctgctgag gaggagctgg agagagccat ggtggaggct
     4861 gcgatggagg agggaatatt ccggaggact ggaggcctgt ttggccaggt ggacaacttc
     4921 ctggaaagga ccaactccct gccccccgtc atggccaatc agagacccct ccagtttgct
     4981 gagatagaga tggaagagat ggagtcacct gtcttcttgg aggacttccc acaagatcca
     5041 cgcaccaacc ccctggctcg tgccaatacc aacaatgcca acgccaatgt cgcctatggc
     5101 aacagcaacc atagcaacag ccatgtgttt tccagtgtcc actatgaaag ggagttccca
     5161 gaagagacag agacgcctgc taccagagga cgagcccttg gccaaccctg cagggtcctg
     5221 ggaccccaca gcaaaccctg tgtggagatg ctgaagggac tgctgaccca gagggcaatg
     5281 cccagaggcc aggcacctcc tgccccctgc cagtgcccca gggtggagtc ctccatgcct
     5341 gaggacagaa agagctccac accagggtct cttcatgagg agacacccca cagcaggagc
     5401 accagggaga atacttccag gtgctcagca ccagctacag ccctgctgat ccaaaaggct
     5461 ctggttcgag ggggcctggg caccttggca gctgatgcaa acttcatcat ggcaacaggc
     5521 caggccctgg cagatgcctg ccaaatggaa ccagaggaag tggagatcat ggcaacagag
     5581 ctactgaaag gacgagaggc cccagagggc atggccagct ccctgggatg cctgaacctc
     5641 gggtcctccc tgggcagcct cgaccaacac cagggctccc aggagaccct tattcctcca
     5701 aggctgtgat gcccacacag catcagcatg ggcttagagc tggcatgacc aatgggggtg
     5761 gggaagttgc tggggtggag aagggctagc ccaccgcagc agcctccctc cctctcagca
     5821 gctagatgca tggcctgagg cagggtggtc aggaaccacc tcaaaaagtg cggaggaagt
     5881 agctggacag gccctgcccc tcaccagcaa gaggcatgat tggatggagc ttctaatgtc
     5941 attcaaaaag gcctggtcag tgcctgtctg gcctagggcc actcccacct gcaggacatt
     6001 aaaatctcca ggcctgtgac actggcaa
//
