RGD:13789582 Rat Genome Database

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Variant: RGD:13789582 -  Homo sapiens

RGD ID: 13789582
RS ID: rs148285323
ClinVar ID: CV543689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MMUT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 49,409,584
GRCh38 6 49,441,871
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007100.1:g.26269G>T
NC_000006.11:g.49409584C>A
NP_000246.2:p.Glu593Ter
NM_000255.3:c.1777G>T
More... 		06/02/2022 nonsense pathogenic|likely pathogenic Methylmalonic aciduria, mut type; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MMUT
Accession:NM_000255
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMD
LPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMA
GVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIA
KMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVK
SARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARC
TVGEITDALKKVFGEHKANDRMVSGAYRQEFG*SKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFAD
LGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV*

Gene Symbol:MMUT
Accession:XM_005249143
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLIWHTPEGISIKPLYSKRDTMD
LPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESNKFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMA
GVAIDTVEDTKILFDGIPLEKMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDEFAPRLSFFWGIGMNFYMEIA
KMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTEQDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVK
SARIARNTQIIIQEESGIPKVADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTECAASGDGNILALAVDASRARC
TVGEITDALKKVFGEHKANDRMVSGAYRQEFG*SKEITSAIKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFAD
LGFDVDIGPLFQTPREVAQQAVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV*
Variant Samples
Additional References at PubMed
PMID:15781192   PMID:26454439   PMID:28492532   PMID:31466887   PMID:31622506  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000674579 CLINVAR
  RCV002531356 CLINVAR
dbSNP (RS) rs148285323 CLINVAR
MedGen C1855114 CLINVAR
  C3661900 CLINVAR
NCBI Gene MUT CLINVAR
OMIM 251000 CLINVAR
  609058 CLINVAR