RGD:12850302 Rat Genome Database

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Variant: RGD:12850302 -  Homo sapiens

RGD ID: 12850302
RS ID: rs771317809
ClinVar ID: CV371156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDC  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 50,537,838
GRCh38 7 50,470,140
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008742.1:g.100317G>A
NC_000007.14:g.50470140C>T
NC_000007.13:g.50537838C>T
NM_000790.4:c.1073G>A
More...
10/17/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity Aromatic amino acid decarboxylase deficiency; DDC deficiency; Dopa decarboxylase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DDC
Accession:NM_001082971
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFHSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:NM_001242888
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGGSASEATLVALLA
ARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFF
MVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKK
RTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFHSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRF
EICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAE
RE*

Gene Symbol:DDC
Accession:NM_001242886
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGAASPACTELETVM
MDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERA
GLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSA
FICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFH
SLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPC
HLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_001242889
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQMVATLGTTTCCSFDN
LLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYL
KHSHQDSGLITDYRHWQIPLGRRFHSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRL
KGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_001242887
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLL
NGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFHSLKMWFVFRM
YGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRF
AICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_000790
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFHSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:XM_005271745
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 320
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGAASPACTELETVM
MDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERA
GLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSA
FICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFH
SLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPC
HLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:XM_047419932
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWGCCLGRGSNQPIRCVQSLGAGGSLEKGLAPACKPPVPPYLEAASPACTELETVMM
DWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAG
LIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAF
ICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFHS
LKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCH
LRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:XM_047419931
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFHSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:NM_001242890
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17240182   PMID:25741868   PMID:28492532   PMID:29356298   PMID:32369189  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000445005 CLINVAR
  RCV000578157 CLINVAR
dbSNP (RS) rs771317809 CLINVAR
MedGen C1291564 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene DDC CLINVAR
OMIM 107930 CLINVAR
  608643 CLINVAR
SNOMED CT 124600004 CLINVAR