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Results for the Protein: Q9UL12
52000845

SARDH_HUMAN RecName: Full=Sarcosine dehydrogenase, mitochondrial; Short=SarDH; AltName: Full=BPR-2; Flags: Precursor

Known Diseases associated with this Protein:
  SARCOSINEMIA
  SARCOSINEMIA (SARCOS)
6
4
4
2
4
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Default View:

GlpA - COG0578
DadA - COG0665
COG0579 - COG0579
DAO - pfam01266
GcvT - COG0404
GCV_T - pfam01571
GCV_T_C - pfam08669


Swiss-Prot Protein: Q9UL12
Identical to: NP_001128179, NP_009032
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GlpACOG05784.8e-0555547
DadACOG06651.8e-7963455
COG0579COG05790.0002164453
GcvTCOG04049.3e-99479916
DAOpfam012661.4e-8768427
GCV_Tpfam015714e-73570798
GCV_T_Cpfam086695.6e-17805904

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2073817 Polymorphismp.ARG614HISN/A
Swiss-ProtVAR_039078Polymorphismp.GLU372ASPN/A
Swiss-ProtVAR_039077Polymorphismp.GLY22CYSN/A
dbSNPrs886016 Polymorphismp.MET648VALN/A
Swiss-ProtVAR_069273Diseasep.PRO287LEUSarcosinemia (SARCOS)
Swiss-ProtVAR_069272Diseasep.VAL71PHESarcosinemia (SARCOS)
OMIM604455.0004 Diseasep.ARG514TERSARCOSINEMIA
OMIM604455.0003 Diseasep.ARG723TERSARCOSINEMIA
OMIM604455.0002 Diseasep.PRO287LEUSARCOSINEMIA
OMIM604455.0001 Diseasep.VAL71PHESARCOSINEMIA



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