RGD:14739063 Rat Genome Database

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Variant: RGD:14739063 -  Homo sapiens

RGD ID: 14739063
RS ID: rs111352707
ClinVar ID: CV635447
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLD  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 107,545,432
GRCh38 7 107,904,987
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001289750.1:c.70A>G
NG_008045.1:g.18847A>G
NC_000007.14:g.107904987A>G
NP_001276679.1:p.Met24Val
More... 		12/11/2018 missense variant uncertain significance Dihydrolipoamide Dehydrogenase (E3) Deficiency; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Dihydrolipoamide Dehydrogenase E3 Deficiency; DLD DEFICIENCY; Lipoamide dehydrogenase deficiency; Lipoamide dehydrogenase deficiency, lactic acidosis due to; Maple syrup urine disease, type 3; MAPLE SYRUP URINE DISEASE, TYPE III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DLD
Accession:NM_001289752
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC
LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKVMEQKSTAVKALTGGIAHLFKQNKIDEDTIVSSTGALS
LKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGK
IDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAED
EGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTD
RVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:DLD
Accession:NM_001289750
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHGKDFASRGIEMSEVRLNLDKVMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNI
LIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISK
NFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPV
NTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVG
KFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANL
AASFGKSINF*

Gene Symbol:DLD
Accession:NM_000108
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC
LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKVMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKN
QVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT
AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTK
NLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVA
WVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI
ARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:DLD
Accession:NM_001289751
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKALLNNSHYYHMAHG
KDFASRGIEMSEVRLNLDKVMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIAT
GSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQR
ILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRF
QTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPF
AANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASF
GKSINF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000804795 CLINVAR
dbSNP (RS) rs111352707 CLINVAR
MedGen C5574660 CLINVAR
NCBI Gene DLD CLINVAR
OMIM 238331 CLINVAR
  246900 CLINVAR