Results for the protein: P31040

Results for the Protein: P31040

1169337

6389

SDHA

NCBI, UniProt

DHSA_HUMAN RecName: Full=Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial; AltName: Full=Flavoprotein subunit of complex II; Short=Fp; Flags: Precursor

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1GG, INCLUDED
  LEIGH SYNDROME (LS)
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
  LEIGH SYNDROME, INCLUDED;;
  MITOCHONDRIAL COMPLEX II DEFICIENCY
  MITOCHONDRIAL COMPLEX II DEFICIENCY (MT-C2D)
  PARAGANGLIOMAS 5
  PARAGANGLIOMAS 5 (PGL5)

11

9

7

8

5

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Default View: SdhA - COG1053 NadB - COG0029 FAD_binding_2 - pfam00890 Succ_DH_flav_C - pfam02910	Swiss-Prot Protein: P31040 Identical to: NP_004159 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NadB	COG0029	3.7e-81	58	619
FAD_binding_2	pfam00890	6.8e-179	63	457
Succ_DH_flav_C	pfam02910	4.7e-83	512	664

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs111387770	Polymorphism	p.ALA466THR	N/A
Swiss-Prot	VAR_016878	Disease	p.ALA524VAL	Leigh syndrome (LS)
dbSNP	rs138277996	Polymorphism	p.ARG465GLN	N/A
Swiss-Prot	VAR_002449	Disease	p.ARG554TRP	Leigh syndrome (LS)
Swiss-Prot	VAR_065975	Disease	p.ARG589TRP	Paragangliomas 5 (PGL5)
dbSNP	rs34635677	Polymorphism	p.ASP38VAL	N/A
Swiss-Prot	VAR_049216	Polymorphism	p.GLU240GLN	N/A
Swiss-Prot	VAR_016879	Disease	p.GLY555GLU	Mitochondrial complex II deficiency (MT-C2D)
dbSNP	rs1061518	Polymorphism	p.PHE33VAL	N/A
dbSNP	rs76896145	Polymorphism	p.SER456LEU	N/A
dbSNP	rs6960	Polymorphism	p.TYR629PHE	N/A
dbSNP	rs1062468	Polymorphism	p.VAL333ILE	N/A
dbSNP	rs6962	Polymorphism	p.VAL657ILE	N/A
OMIM	600857.0002	Disease	p.ALA524VAL	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
OMIM	600857.0001	Disease	p.ARG554TRP	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
OMIM	600857.0005	Disease	p.ARG589TRP	PARAGANGLIOMAS 5
OMIM	600857.0004	Disease	p.GLY555GLU	MITOCHONDRIAL COMPLEX II DEFICIENCY\|\|LEIGH SYNDROME, INCLUDED;;\|\|CARDIOMYOPATHY, DILATED, 1GG, INCLUDED
OMIM	600857.0003	Disease	p.MET1LEU	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX II DEFICIENCY
OMIM	600857.0007	Disease	p.SER509LEU	MITOCHONDRIAL COMPLEX II DEFICIENCY
OMIM	600857.0006	Disease	p.THR508ILE	MITOCHONDRIAL COMPLEX II DEFICIENCY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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