RGD:8597107 Rat Genome Database

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Variant: RGD:8597107 -  Homo sapiens

RGD ID: 8597107
RS ID: rs121434410
ClinVar ID: CV21385
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHROMR  PRKRA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 179,300,991
GRCh38 2 178,436,264
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_009053.1:g.19968C>T
NC_000002.12:g.178436264G>A
NC_000002.11:g.179300991G>A
NP_003681.1:p.Pro222Leu
More... 		05/28/2019 intron variant|missense|missense variant pathogenic childhood|infancy <1 / 1 000 000 DYT-PRKRA; none provided
Disease Annotations     Click to see Annotation Detail View
dystonia 16  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PRKRA
Accession:NM_001316362
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAAEKFLAKFS
NISPENHISLTNVVGHSLGCTWHSLRNSHGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELSANGQYQCL
AELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:XM_011512063
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQVFGELNFFVFSSSKISWLSFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRL
ESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSHGEKINLLKRSLLSIPNTDYIQLL
SEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_001139518
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASI
CFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQAKRNAA
EKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSHGEKINLLKRSLLSIPNTDYIQLLSEIAKEQGFNITYLDIDELS
ANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_001139517
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSTPFCGFCSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGEGTSKKLAKHRA
AEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMET
GKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSHGEKINLLKRSLLSIPNTDYIQLLSEIAKE
QGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:NM_003690
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETGKGASKKQAKRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSHGEKINLLKRSLLSIPNTD
YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAHNALQYLKIIAERK*

Gene Symbol:PRKRA
Accession:XM_047446138
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQIHVPTFTFRVTVGDITCTGE
GTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQPKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYT
TICRLESFMETDKCSRTFFRMYLAFLEEFSW*

Gene Symbol:CHROMR
Accession:NR_110206
Location:INTRON;NON-CODING

Gene Symbol:CHROMR
Accession:NR_110204
Location:INTRON;NON-CODING

Gene Symbol:CHROMR
Accession:NR_110205
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:18243799   PMID:25142429   PMID:25741868   PMID:26231208   PMID:26990861   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006718 CLINVAR
  RCV001786327 CLINVAR
  RCV003914817 CLINVAR
dbSNP (RS) rs121434410 CLINVAR
MedGen C2677567 CLINVAR
  C3661900 CLINVAR
NCBI Gene 101927027 CLINVAR
  PRKRA CLINVAR
OMIM 603424 CLINVAR
  612067 CLINVAR
OMIM Allele 603424.0001 CLINVAR