rs546236565 Rat Genome Database

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Variant: rs546236565 -  Homo sapiens

RGD ID: 10055757
RS ID: rs546236565
ClinVar ID: CV198513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DTNA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 32,409,366
GRCh38 18 34,829,402
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001390.4:c.1094+1726T>C
NG_009201.1:g.341113T>C
NC_000018.10:g.34829402T>C
NP_001185871.1:p.Leu45Ser
More...
03/13/2019 500b downstream variant|intron variant|missense variant likely benign|uncertain significance AllHighlyPenetrant; LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DTNA
Accession:NM_001386795
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARSPPKDSEV
EQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSSSQP
PQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMS
ALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNL
RNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGD
MVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:XM_047437326
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVDTWPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESS
NRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEK
AQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPT
HTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEK
AFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386788
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARSPPKDSEV
EQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSSSQP
PQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMS
ALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRRNL
RNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMRGD
MVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:XM_047437318
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGTQGAGSPRSSPSHTISRPIPMPIRSASAC
STPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSP
TSEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQLHVST
ETRLEHPCPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF*

Gene Symbol:DTNA
Accession:NM_001386755
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386770
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS*

Gene Symbol:DTNA
Accession:XM_017025575
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQLHVSTETRLEHP
CPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF*

Gene Symbol:DTNA
Accession:NM_001386754
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386760
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQN
PTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQ
DSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLA
QIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001198944
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSN
RLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKA
QQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTH
TPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKA
FLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386759
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:XM_047437328
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQN
PTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQ
DSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLA
QIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001198942
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARSPPKDS
EVEQNKLLARAAPAFLKGKGIQYSLNVADRLADEHVLIGLYVNMLRNNPSCMLESSNRLDEEHRLIARYAARLAAESSSS
QPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQR
MSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTPQDSLTGVGGDVQEAFAQSSRR
NLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFLAQIHARKPGYIHSGATTSTMR
GDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386758
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:XM_047437327
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386757
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:NM_001386756
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQVSLQG*

Gene Symbol:DTNA
Accession:XM_047437319
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQN
PTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGTQGAGSPRSSPSHTISRPIPMPIRSASACS
TPTHTPQDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPT
SEKAFLAQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQLHVSTE
TRLEHPCPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF*

Gene Symbol:DTNA
Accession:XM_047437320
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQ
NPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKTQGAGSPRSSPSHTISRPIPMPIRSASACSTPTHTP
QDSLTGVGGDVQEAFAQSSRRNLRNDLLVAADSITNTMSSLVKELNSEVGSETESNVDSEFARTQFEDLVPSPTSEKAFL
AQIHARKPGYIHSGATTSTMRGDMVTEDADPYVQPEDENYENDSVRQLENELQMEEYLKQKLQDEAYQLHVSTETRLEHP
CPVSETKWRVLFWGFVFFGGFLSLALQIYFWGLF*

Gene Symbol:DTNA
Accession:XM_047437335
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSR
LEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSG
VMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQKKVTLNGFLDTLMSDPPPQCLVWLPLLHRLANVENVFHP
VECSYCHSESMMGFRYRCQQCHNYQLCQDCFWRGHAGGSHSNQHQMKEYTSWKSPAKKLTNALSKSLSCASSREPLHPMF
PDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRRSPEGISASSPVAEEHSLIKLYVNQLDHGARMLESSNRL
DEEHRLIARYAARLAAESSSSPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQN
PTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS*

Gene Symbol:DTNA
Accession:NM_001198945
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001392
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386769
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437340
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437330
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001390
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386766
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386772
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437331
Location:INTRON

Gene Symbol:DTNA
Accession:NM_032979
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386762
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437317
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386753
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437323
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386763
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386765
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386775
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437324
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437325
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001391
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386777
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437337
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437334
Location:INTRON

Gene Symbol:DTNA
Accession:NM_032978
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437321
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437339
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001198939
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001128175
Location:INTRON

Gene Symbol:DTNA
Accession:NM_032981
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437336
Location:INTRON

Gene Symbol:DTNA
Accession:NM_032975
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001198940
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386764
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386773
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437333
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386761
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386774
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437316
Location:INTRON

Gene Symbol:DTNA
Accession:NM_032980
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437322
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386776
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437338
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001198943
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386768
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386771
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437332
Location:INTRON

Gene Symbol:DTNA
Accession:XM_047437329
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001198938
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001198941
Location:INTRON

Gene Symbol:DTNA
Accession:NM_001386767
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000183427 CLINVAR
  RCV001001116 CLINVAR
  RCV004705012 CLINVAR
dbSNP (RS) rs546236565 CLINVAR
MedGen C1858725 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DTNA CLINVAR
OMIM 601239 CLINVAR
  604169 CLINVAR