RGD:10058829 Rat Genome Database

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Variant: RGD:10058829 -  Homo sapiens

RGD ID: 10058829
RS ID: rs547662164
ClinVar ID: CV200097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 70,900,248
GRCh38 5 71,604,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008882.1:g.22134C>T
NC_000005.10:g.71604421C>T
NC_000005.9:g.70900248C>T
NP_071415.1:p.Arg193Cys
More... 		08/02/2021 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; 3 Methylcrotonylglycinuria; 3-MCC Deficiency; Deficiency of methylcrotonoyl-CoA carboxylase; MCC 2 deficiency; Methylcrotonylglycinuria type 2; METHYLCROTONYLGLYCINURIA, TYPE II
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:XM_047417469
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQVKAATGEEVSAEDLGGADLHCRKSGVSDHWAL
DDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREKFFMKYFLRLDLNSYNSTWQHALGK
AQDINLL*

Gene Symbol:MCCC2
Accession:XM_047417470
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQVKAATGEEVSAEDLGGADLHCRKSGVSDHWAL
DDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREKFFMKYFLRLDLNSYNSTWQHGKEV
KNNSE*

Gene Symbol:MCCC2
Accession:NM_022132
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLF
LQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAAN
VLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGI
FRM*

Gene Symbol:MCCC2
Accession:NM_001363147
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQVKAATGEEVSAEDLGGADLHCRKSGVSDHWAL
DDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTG
FARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKIT
LIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGN
PYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM*

Gene Symbol:MCCC2
Accession:XM_011543529
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREKFFMKYFLRLDLNSYNSTWQHGKEVKNNSE*

Gene Symbol:MCCC2
Accession:XM_047417468
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTALGKAQDINLL*

Gene Symbol:MCCC2
Accession:XM_017009688
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGCTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREKFFMKYFLRLDLNSYNSTWQHALGKAQDINLL*
Variant Samples
Additional References at PubMed
PMID:11181649   PMID:16835865   PMID:22642865   PMID:25382614   PMID:25741868   PMID:28492532   PMID:31730530  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001248667 CLINVAR
  RCV002282018 CLINVAR
dbSNP (RS) rs547662164 CLINVAR
MedGen C1859499 CLINVAR
  C4551505 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 210210 CLINVAR
  609014 CLINVAR
SNOMED CT 13144005 CLINVAR