LOCUS       NM_001256789            6006 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens calcium voltage-gated channel subunit alpha1 F
            (CACNA1F), transcript variant 2, mRNA.
ACCESSION   NM_001256789
VERSION     NM_001256789.3
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 6006)
  AUTHORS   Marziali,E., Van Den Broeck,F., Bargiacchi,S., Fortunato,P.,
            Caputo,R., Sodi,A., De Zaeytijd,J., Murro,V., Mucciolo,D.P.,
            Giorgio,D., Passerini,I., Palazzo,V., Peluso,F., de Baere,E.,
            Zeitz,C., Leroy,B.P., Secci,J. and Bacci,G.M.
  TITLE     Optic nerve involvement in CACNA1F-related disease: observations
            from a multicentric case series
  JOURNAL   Ophthalmic Genet 44 (2), 152-162 (2023)
   PUBMED   36469668
  REMARK    GeneRIF: Optic nerve involvement in CACNA1F-related disease:
            observations from a multicentric case series.
REFERENCE   2  (bases 1 to 6006)
  AUTHORS   Sallah,S.R., Sergouniotis,P.I., Hardcastle,C., Ramsden,S.,
            Lotery,A.J., Lench,N., Lovell,S.C. and Black,G.C.M.
  TITLE     Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants
            Using Structural Modeling
  JOURNAL   J Mol Diagn 24 (12), 1232-1239 (2022)
   PUBMED   36191840
  REMARK    GeneRIF: Assessing the Pathogenicity of In-Frame CACNA1F Indel
            Variants Using Structural Modeling.
REFERENCE   3  (bases 1 to 6006)
  AUTHORS   Tan,G.M., Yu,D., Wang,J. and Soong,T.W.
  TITLE     Alternative splicing at C terminus of Ca(V)1.4 calcium channel
            modulates calcium-dependent inactivation, activation potential, and
            current density
  JOURNAL   J Biol Chem 287 (2), 832-847 (2012)
   PUBMED   22069316
REFERENCE   4  (bases 1 to 6006)
  AUTHORS   Boycott,K.M., Maybaum,T.A., Naylor,M.J., Weleber,R.G.,
            Robitaille,J., Miyake,Y., Bergen,A.A., Pierpont,M.E., Pearce,W.G.
            and Bech-Hansen,N.T.
  TITLE     A summary of 20 CACNA1F mutations identified in 36 families with
            incomplete X-linked congenital stationary night blindness, and
            characterization of splice variants
  JOURNAL   Hum Genet 108 (2), 91-97 (2001)
   PUBMED   11281458
REFERENCE   5  (bases 1 to 6006)
  AUTHORS   Bech-Hansen,N.T., Naylor,M.J., Maybaum,T.A., Pearce,W.G., Koop,B.,
            Fishman,G.A., Mets,M., Musarella,M.A. and Boycott,K.M.
  TITLE     Loss-of-function mutations in a calcium-channel alpha1-subunit gene
            in Xp11.23 cause incomplete X-linked congenital stationary night
            blindness
  JOURNAL   Nat Genet 19 (3), 264-267 (1998)
   PUBMED   9662400
REFERENCE   6  (bases 1 to 6006)
  AUTHORS   Strom,T.M., Nyakatura,G., Apfelstedt-Sylla,E., Hellebrand,H.,
            Lorenz,B., Weber,B.H., Wutz,K., Gutwillinger,N., Ruther,K.,
            Drescher,B., Sauer,C., Zrenner,E., Meitinger,T., Rosenthal,A. and
            Meindl,A.
  TITLE     An L-type calcium-channel gene mutated in incomplete X-linked
            congenital stationary night blindness
  JOURNAL   Nat Genet 19 (3), 260-263 (1998)
   PUBMED   9662399
REFERENCE   7  (bases 1 to 6006)
  AUTHORS   Fisher,S.E., Ciccodicola,A., Tanaka,K., Curci,A., Desicato,S.,
            D'urso,M. and Craig,I.W.
  TITLE     Sequence-based exon prediction around the synaptophysin locus
            reveals a gene-rich area containing novel genes in human proximal
            Xp
  JOURNAL   Genomics 45 (2), 340-347 (1997)
   PUBMED   9344658
REFERENCE   8  (bases 1 to 6006)
  AUTHORS   Bergen,A.A., ten Brink,J.B., Riemslag,F., Schuurman,E.J., Meire,F.,
            Tijmes,N. and de Jong,P.T.
  TITLE     Conclusive evidence for a distinct congenital stationary night
            blindness locus in Xp21.1
  JOURNAL   J Med Genet 33 (10), 869-872 (1996)
   PUBMED   8933343
REFERENCE   9  (bases 1 to 6006)
  AUTHORS   Bergen,A.A., ten Brink,J.B., Riemslag,F., Schuurman,E.J. and
            Tijmes,N.
  TITLE     Localization of a novel X-linked congenital stationary night
            blindness locus: close linkage to the RP3 type retinitis pigmentosa
            gene region
  JOURNAL   Hum Mol Genet 4 (5), 931-935 (1995)
   PUBMED   7633454
REFERENCE   10 (bases 1 to 6006)
  AUTHORS   MacDonald,I.M., Hoang,S. and Tuupanen,S.
  TITLE     X-Linked Congenital Stationary Night Blindness
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ224874.1, AC232271.2 and
            AF201304.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001256789.2.
            
            Summary: This gene encodes a multipass transmembrane protein that
            functions as an alpha-1 subunit of the voltage-dependent calcium
            channel, which mediates the influx of calcium ions into the cell.
            The encoded protein forms a complex of alpha-1, alpha-2/delta,
            beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene
            can cause X-linked eye disorders, including congenital stationary
            night blindness type 2A, cone-rod dystropy, and Aland Island eye
            disease. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed. [provided by RefSeq, Aug
            2013].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' coding region, but maintains the reading frame, compared
            to variant 1. The encoded isoform (2) is shorter than isoform 1.
            
            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 :: AJ224874.1, JF701915.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323022.10/ ENSP00000321618.6
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1839              AJ224874.1         32-1870
            1840-1840           AC232271.2         58648-58648
            1841-3306           AJ224874.1         1872-3337
            3307-3307           AC232271.2         67973-67973
            3308-6005           AJ224874.1         3339-6036
            6006-6006           AF201304.1         6070-6070
FEATURES             Location/Qualifiers
     source          1..6006
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..6006
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /note="calcium voltage-gated channel subunit alpha1 F"
                     /db_xref="GeneID:778"
                     /db_xref="HGNC:HGNC:1393"
                     /db_xref="MIM:300110"
     exon            1..56
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..5932
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     calcium channel, voltage-dependent, L type, alpha 1F
                     subunit; voltage-gated calcium channel subunit alpha
                     Cav1.4"
                     /codon_start=1
                     /product="voltage-dependent L-type calcium channel subunit
                     alpha-1F isoform 2"
                     /protein_id="NP_001243718.1"
                     /db_xref="CCDS:CCDS59167.1"
                     /db_xref="GeneID:778"
                     /db_xref="HGNC:HGNC:1393"
                     /db_xref="MIM:300110"
                     /translation="MSESEGGKDTTPEPSPANGAGPGPEWGLCPGPPAVEGESSGASG
                     LGTPKRRNQHSKHKTVAVASAQRSPRALFCLTLANPLRRSCISIVEWKPFDILILLTI
                     FANCVALGVYIPFPEDDSNTANHNLEQVEYVFLVIFTVETVLKIVAYGLVLHPSAYIR
                     NGWNLLDFIIVVVGLFSVLLEQGPGRPGDAPHTGGKPGGFDVKALRAFRVLRPLRLVS
                     GVPSLHIVLNSIMKALVPLLHIALLVLFVIIIYAIIGLELFLGRMHKTCYFLGSDMEA
                     EEDPSPCASSGSGRACTLNQTECRGRWPGPNGGITNFDNFFFAMLTVFQCVTMEGWTD
                     VLYWMQDAMGYELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARGDFQKQR
                     EKQQMEEDLRGYLDWITQAEELDMEDPSADDNLGPQLAELTNRRRGRLRWFSHSTRST
                     HSTSSHASLPASDTGSMTETQGDEDEEEGALASCTRCLNKIMKTRVCRRLRRANRVLR
                     ARCRRAVKSNACYWAVLLLVFLNTLTIASEHHGQPVWLTQIQEYANKVLLCLFTVEML
                     LKLYGLGPSAYVSSFFNRFDCFVVCGGILETTLVEVGAMQPLGISVLRCVRLLRIFKV
                     TRHWASLSNLVASLLNSMKSIASLLLLLFLFIIIFSLLGMQLFGGKFNFDQTHTKRST
                     FDTFPQALLTVFQILTGEDWNVVMYDGIMAYGGPFFPGMLVCIYFIILFICGNYILLN
                     VFLAIAVDNLASGDAGTAKDKGGEKSNEKDLPQENEGLVPGVEKEEEEGARREGADME
                     EEEEEEEEEEEEEEEEGAGGVELLQEVVPKEKVVPIPEGSAFFCLSQTNPLRKGCHTL
                     IHHHVFTNLILVFIILSSVSLAAEDPIRAHSFRNHILGYFDYAFTSIFTVEILLKMTV
                     FGAFLHRGSFCRSWFNMLDLLVVSVSLISFGIHSSAISVVKILRVLRVLRPLRAINRA
                     KGLKHVVQCVFVAIRTIGNIMIVTTLLQFMFACIGVQLFKGKFYTCTDEAKHTPQECK
                     GSFLVYPDGDVSRPLVRERLWVNSDFNFDNVLSAMMALFTVSTFEGWPALLYKAIDAY
                     AEDHGPIYNYRVEISVFFIVYIIIIAFFMMNIFVGFVIITFRAQGEQEYQNCELDKNQ
                     RQCVEYALKAQPLRRYIPKNPHQYRVWATVNSAAFEYLMFLLILLNTVALAMQHYEQT
                     APFNYAMDILNMVFTGLFTIEMVLKIIAFKPKHYFTDAWNTFDALIVVGSIVDIAVTE
                     VNNGGHLGESSEDSSRISITFFRLFRVMRLVKLLSKGEGIRTLLWTFIKSFQALPYVA
                     LLIAMIFFIYAVIGMQMFGKVALQDGTQINRNNNFQTFPQAVLLLFRCATGEAWQEIM
                     LASLPGNRCDPESDFGPGEEFTCGSNFAIAYFISFFMLCAFLIINLFVAVIMDNFDYL
                     TRDWSILGPHHLDEFKRIWSEYDPGAKGRIKHLDVVALLRRIQPPLGFGKLCPHRVAC
                     KRLVAMNMPLNSDGTVTFNATLFALVRTSLKIKTEGNLEQANQELRIVIKKIWKRMKQ
                     KLLDEVIPPPDEEEVTVGKFYATFLIQDYFRKFRRRKEKGLLGNDAAPSTSSALQAGL
                     RSLQDLGPEMRQALTCDTEEEEEEGQEGVEEEDEKDLETNKATMVSQPSARRGSGISV
                     SLPVGDRLPDSLSFGPSDDDRGTPTSSQPSVPQAGSNTHRRGSGALIFTIPEEGNSQP
                     KGTKGQNKQDEDEEVPDRLSYLDEQAGTPPCSVLLPPHRAQRYMDGHLVPRRRLLPPT
                     PAGRKPSFTIQCLQRQGSCEDLPIPGTYHRGRNSGPNRAQGSWATPPQRGRLLYAPLL
                     LVEEGAAGEGYLGRSSGPLRTFTCLHVPGTHSDPSHGKRGSADSLVEAVLISEGLGLF
                     ARDPRFVALAKQEIADACRLTLDEMDNAASDLLAQGTSSLYSDEESILSRFDEEDLGD
                     EMACVHAL"
     exon            57..306
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            307..412
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            413..552
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            553..695
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            696..848
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1045
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1046..1149
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1307
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1400
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1494
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..1521
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1682
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1683..1908
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1909..2116
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2117..2237
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2238..2319
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2320..2365
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2366..2417
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2418..2574
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2575..2704
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2705..2764
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2765..2871
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2872..2959
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            2960..3067
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3068..3120
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3121..3267
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3268..3469
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3470..3628
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3629..3739
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3740..3823
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3824..3844
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3845..3973
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            3974..4039
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4040..4131
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4132..4291
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4292..4419
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4420..4516
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4517..4619
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4620..4721
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4722..4852
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4853..4984
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            4985..5154
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            5155..5262
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            5263..5390
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            5391..5503
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            5504..5701
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     exon            5702..6006
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      6006
                     /gene="CACNA1F"
                     /gene_synonym="AIED; Cav1.4; Cav1.4alpha1; COD3; COD4;
                     CORDX; CORDX3; CSNB2; CSNB2A; CSNBX2; JM8; JMC8; OA2"
                     /note="major polyA site"
ORIGIN      
        1 gtgcagatgg cccttcaatc tcgaaagaaa gatgtcggaa tctgaaggcg ggaaagacac
       61 caccccagag cccagtccag ccaatggggc aggccctggt cccgaatggg ggctgtgccc
      121 cgggccccca gctgtggaag gtgaaagcag tggggcatca ggcctaggga cccctaagcg
      181 aagaaaccag cacagcaagc acaagacagt ggcagtggcc agtgcccagc ggtcacctcg
      241 ggcactcttc tgcctcaccc tggccaatcc tctgcgacgg tcctgcatca gcatcgtgga
      301 gtggaagccc ttcgacatcc tcatcctgct gaccatcttt gccaactgcg tggccctggg
      361 agtttacatc cccttccctg aggacgactc caacactgcc aaccacaacc tggagcaggt
      421 ggagtacgta ttcctggtga ttttcactgt ggagacggtg ctcaagatcg tggcctacgg
      481 gctggtgctc caccccagcg cctacatccg caatggctgg aacctactcg acttcatcat
      541 cgtcgtggtc gggctgttca gcgttctgct ggagcagggc cccggacggc caggcgacgc
      601 cccgcacacc gggggaaagc caggaggctt cgatgtgaag gcattgaggg cgtttcgggt
      661 gctgcggcca ctgaggctgg tgtctggggt cccgagcctg cacatagtgc tcaattccat
      721 catgaaggct ctggtgccgc tgctgcacat tgcactgctc gtgctcttcg tcatcatcat
      781 ttatgccatc attgggctcg agctgttcct tggacgaatg cacaagacgt gctacttcct
      841 gggatccgac atggaagcgg aggaggaccc atcgccctgt gcgtcttcgg gatcagggcg
      901 tgcgtgcacg ctgaaccaga ctgagtgccg cgggcgctgg ccagggccca atggaggcat
      961 caccaacttt gacaacttct tcttcgccat gctgacagtc ttccagtgtg tcaccatgga
     1021 aggctggacc gatgtgctct actggatgca agatgccatg gggtatgaac tgccctgggt
     1081 gtactttgtg agccttgtca tctttgggtc cttcttcgtc ctcaaccttg tgcttggcgt
     1141 cctgagtggg gagttctcca aggagagaga gaaagcgaaa gctcgcgggg acttccagaa
     1201 gcagcgggag aagcagcaga tggaggaaga cctgcggggc tacctggact ggatcactca
     1261 agccgaagag ctggacatgg aggacccctc cgccgatgac aaccttgggc cacagctggc
     1321 cgagctgacc aataggaggc gtggacgtct gcgctggttc agtcattcta ctcgctccac
     1381 acactccacc agcagccatg ccagcctccc agccagtgac accggttcca tgacagagac
     1441 ccaaggcgat gaggatgagg aggagggggc tctggccagc tgtacacgct gcctaaacaa
     1501 gatcatgaaa accagagtct gccgccgcct ccgccgagcc aaccgggtcc ttcgggcacg
     1561 ctgccgtcgg gcagtgaagt ccaatgcctg ctactgggct gtgctgttgc tcgtcttcct
     1621 caacacgttg accatcgcct ctgagcacca cgggcagcct gtgtggctca cccagatcca
     1681 ggagtatgcc aacaaagtgt tgctctgtct gttcacggtg gagatgcttc tcaaattgta
     1741 cggtctgggc ccctctgcct atgtgtcttc cttcttcaac cgctttgact gctttgtggt
     1801 ctgtgggggc atcctagaga ccaccttggt ggaggtgggt gccatgcagc ccttgggcat
     1861 ctcagtgctc cgatgtgtgc gcctcctcag gatctttaag gtcaccagac actgggcttc
     1921 tctgagcaat ctggtggcat ccctgctcaa ttcaatgaaa tccatcgcat ccttgctgct
     1981 tctcctcttc ctcttcatca ttatcttctc cctgcttggc atgcagctgt ttgggggcaa
     2041 gttcaacttt gaccagaccc acaccaagcg aagcaccttt gacacgttcc cccaggccct
     2101 cctcactgtc tttcagatcc tgacaggtga ggactggaac gtggtcatgt atgatggtat
     2161 catggcatat ggtggcccct tcttcccagg aatgttggtg tgcatctatt tcatcattct
     2221 cttcatctgt ggcaactaca tcctgttgaa cgtgtttctt gccattgctg tggacaacct
     2281 ggccagtgga gatgcaggca ctgccaagga caagggcggg gagaagagca atgagaagga
     2341 tctcccacag gagaatgaag gcctggtgcc tggtgtggag aaagaggaag aggagggtgc
     2401 aaggagggaa ggagcagaca tggaggagga ggaggaggag gaagaagagg aagaagagga
     2461 agaagaggaa gagggtgcag ggggtgtgga actcctgcag gaagttgtac ccaaggagaa
     2521 ggtggtaccc atccctgagg gcagcgcctt cttctgcctc agccaaacca acccgctgag
     2581 gaagggctgc cacaccctca tccaccatca tgtcttcacc aatcttatcc tggtgttcat
     2641 catcctcagc agtgtgtccc tggccgctga ggaccccatc cgagcccact ccttccgcaa
     2701 ccatattctg ggttacttcg attatgcctt cacctccatt ttcactgtgg agattctact
     2761 aaagatgaca gtgtttgggg ccttcctgca ccgcggctcc ttctgccgta gctggtttaa
     2821 tatgttggat ctgctggtgg tcagtgtgtc cctcatctcc tttggcatcc actccagcgc
     2881 catctcggtg gtgaagattc tgcgagtact ccgagtactg cggcccctcc gagccatcaa
     2941 cagggccaag ggactcaagc atgtggtgca gtgtgtattt gtggccatcc ggaccatcgg
     3001 aaacatcatg attgtcacca cacttctgca atttatgttc gcctgcatcg gggtgcagct
     3061 cttcaagggg aaattctaca cctgcacgga cgaggccaaa cacacccctc aagaatgcaa
     3121 gggctccttc ctggtatacc cagatggaga cgtgtcacgg cccctggtcc gggagcggct
     3181 ctgggtcaac agtgatttca actttgacaa tgtcctttca gccatgatgg ccctgttcac
     3241 tgtctccacc tttgaaggct ggcctgcact gctatacaag gccatcgatg catatgcaga
     3301 ggaccacggc cccatctata attaccgtgt ggagatctca gtgttcttca ttgtctacat
     3361 catcatcatt gcgttcttca tgatgaacat cttcgtgggc ttcgtcatca tcactttccg
     3421 tgcccagggc gagcaggagt accaaaactg tgagctggac aagaaccagc gtcaatgtgt
     3481 ggaatatgcc ctcaaggccc agccactccg ccgttacatc cccaagaacc cgcatcagta
     3541 tcgtgtgtgg gccactgtga actctgctgc ctttgagtac ctgatgttcc tgctcatcct
     3601 gctcaacaca gttgccctag ccatgcagca ctatgagcag actgctccct tcaactatgc
     3661 catggacatc ctcaacatgg tcttcactgg cctcttcact attgagatgg tgctcaaaat
     3721 catcgccttc aagcccaagc attacttcac tgatgcctgg aacacgtttg acgctcttat
     3781 tgtggtgggc agcatagtgg atattgccgt cactgaagtc aataatggtg gccaccttgg
     3841 cgagagctct gaggacagct cccgcatttc cattaccttc tttcgcctct tccgagttat
     3901 gcggctggtc aagcttctca gtaagggtga agggatccgc acattgctct ggacattcat
     3961 caagtccttc caggccttgc cctatgtggc tcttctcatc gcaatgatat tcttcatcta
     4021 tgccgtcatt ggcatgcaga tgttcggcaa ggtggctctt caggatggca cacagataaa
     4081 ccgaaacaac aacttccaga cctttccaca ggctgtgctg cttctgttca ggtgtgccac
     4141 tggtgaggca tggcaggaga taatgcttgc cagccttccc ggaaatcggt gtgatcctga
     4201 gtctgacttc ggccctggtg aagagtttac ctgtggtagc aattttgcca tcgcctattt
     4261 catcagcttc ttcatgctct gtgccttcct gatcataaat ctctttgtgg ctgtgatcat
     4321 ggacaacttt gattatctca ccagagattg gtccatcctg ggcccccatc accttgatga
     4381 attcaagagg atctggtctg aatatgaccc tggggccaag ggccgcatca aacacttgga
     4441 tgtggttgcc ctgctgagac gtatccagcc ccctctggga tttgggaagc tgtgcccaca
     4501 ccgagtggcc tgcaagagac ttgtggcaat gaacatgccc ctcaactcag atgggacggt
     4561 gacattcaac gccacactct ttgccctggt ccggacatcc ctgaagatca aaacagaagg
     4621 gaacctggag caagccaacc aggagctgcg gattgtcatc aaaaagatct ggaagcggat
     4681 gaaacagaag ctgctagatg aggtcatccc cccaccagac gaggaggagg tcaccgtggg
     4741 caaattctac gccacatttc tgatccagga ctatttccgc aaattccggc ggaggaaaga
     4801 aaaagggcta ctaggcaacg acgccgcccc tagcacctct tccgcccttc aggctggtct
     4861 gcggagcctg caggacttgg gtcctgagat gcggcaggcc ctcacctgtg acacagagga
     4921 ggaggaagaa gaggggcagg agggagtgga ggaggaagat gaaaaggact tggaaactaa
     4981 caaagccacg atggtctccc agccctcagc tcgccggggc tccgggattt ctgtgtctct
     5041 gcctgtcggg gacagacttc cagattcact ctcctttggg cccagtgatg atgacagggg
     5101 gactcccacc tccagtcagc ccagtgtgcc ccaggctgga tccaacaccc acaggagagg
     5161 ctctggggct ctcattttca ccatcccaga agaaggaaat tctcagccca agggaaccaa
     5221 agggcaaaac aagcaagatg aggatgagga agtccctgat cggctttcct acctagatga
     5281 gcaggcaggg actcccccgt gctcagtcct tttgccacct cacagagctc agagatacat
     5341 ggatgggcac ctggtaccac gccgccgtct gctgcccccc acacctgcag gtcggaagcc
     5401 ctccttcacc atccagtgtc tgcagcgcca gggcagttgt gaggatttac ccatcccagg
     5461 cacctatcat cgtgggcgaa attcagggcc caatagggct cagggttcct gggcaacacc
     5521 acctcagcgg ggtcggctcc tgtatgcccc gctgttgttg gtggaagagg gcgcagcggg
     5581 ggaggggtac ctcggcagat ccagtggccc actgcgcacc ttcacctgtc tgcacgtgcc
     5641 tggaacccac tcggacccca gccatgggaa gaggggcagt gccgacagct tggtggaggc
     5701 tgtgcttatc tcagagggtc tgggcctctt tgctcgagac ccacgtttcg tggccctggc
     5761 caagcaggag attgcagatg cgtgtcgcct gacgctggat gagatggaca atgctgccag
     5821 tgacctgctg gcacagggaa ccagctctct ctatagcgac gaggagtcca tcctctcccg
     5881 cttcgatgag gaggacttgg gagacgagat ggcctgcgtc cacgccctct gaattcccac
     5941 ccctccccaa ctgctcaata aacctcctgc cctcccctcc ccagcaggag gcaggcatgg
     6001 accaca
//
