Results for the protein: P21912

Results for the Protein: P21912

20455488

6390

SDHB

NCBI, UniProt

DHSB_HUMAN RecName: Full=Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; AltName: Full=Iron-sulfur subunit of complex II; Short=Ip; Flags: Precursor

Known Diseases associated with this Protein:
  COWDEN DISEASE 2
  GASTROINTESTINAL STROMAL TUMOR, INCLUDED
  PARAGANGLIOMAS 4
  PARAGANGLIOMAS 4 (PGL4)
  PHEOCHROMOCYTOMA
  PHEOCHROMOCYTOMA (PCC)
  PHEOCHROMOCYTOMA, INCLUDED
  PHEOCHROMOCYTOMA, INCLUDED;;
  VARIANT OF UNKNOWN SIGNIFICANCE

29

3

12

1

19

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Default View:	Swiss-Prot Protein: P21912 Identical to: NP_002991 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11203289	Polymorphism	p.ALA3GLY	N/A
Swiss-Prot	VAR_054376	Disease	p.ALA43PRO	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054383	Disease	p.ARG230CYS	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054377	Disease	p.ARG46GLN	Pheochromocytoma (PCC)
Swiss-Prot	VAR_035064	Disease	p.ARG46GLY	Pheochromocytoma (PCC)
Swiss-Prot	VAR_017869	Disease	p.ARG242HIS	Pheochromocytoma (PCC)
Swiss-Prot	VAR_035066	Disease	p.CYS192ARG	Pheochromocytoma (PCC)
Swiss-Prot	VAR_035065	Disease	p.CYS101TYR	Pheochromocytoma (PCC)
Swiss-Prot	VAR_035067	Disease	p.CYS196TYR	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054378	Disease	p.GLY53ARG	Pheochromocytoma (PCC)
Swiss-Prot	VAR_037621	Disease	p.HIS132PRO	Paragangliomas 4 (PGL4)
Swiss-Prot	VAR_054381	Disease	p.ILE127ASN	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054379	Disease	p.LEU65HIS	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054380	Disease	p.LEU65PRO	Pheochromocytoma (PCC)
Swiss-Prot	VAR_018517	Disease	p.LEU87SER	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054375	Polymorphism	p.LYS40GLU	N/A
Swiss-Prot	VAR_018518	Disease	p.PRO131ARG	Paragangliomas 4 (PGL4)
Swiss-Prot	VAR_017868	Disease	p.PRO197ARG	Paragangliomas 4 (PGL4)
Swiss-Prot	VAR_037620	Disease	p.SER100PHE	Pheochromocytoma (PCC)
Swiss-Prot	VAR_054382	Polymorphism	p.SER163PRO	N/A
OMIM	185470.0014	Disease	p.ALA3GLY	COWDEN DISEASE 2
OMIM	185470.0008	Disease	p.ARG46GLY	PHEOCHROMOCYTOMA
OMIM	185470.0004	Disease	p.ARG242HIS	PARAGANGLIOMAS 4\|\|PHEOCHROMOCYTOMA, INCLUDED;;\|\|GASTROINTESTINAL STROMAL TUMOR, INCLUDED
OMIM	185470.0006	Disease	p.ARG27TER	PARAGANGLIOMAS 4\|\|PHEOCHROMOCYTOMA, INCLUDED
OMIM	185470.0001	Disease	p.ARG90TER	PARAGANGLIOMAS 4
OMIM	185470.0020	Disease	p.ASP48VAL	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	185470.0009	Disease	p.CYS101TYR	PHEOCHROMOCYTOMA
OMIM	185470.0010	Disease	p.HIS132PRO	PARAGANGLIOMAS 4
OMIM	185470.0002	Disease	p.PRO197ARG	PARAGANGLIOMAS 4
OMIM	185470.0011	Disease	p.SER100PHE	PHEOCHROMOCYTOMA
OMIM	185470.0015	Disease	p.SER163PRO	COWDEN DISEASE 2
OMIM	185470.0016	Disease	p.VAL140PHE	PARAGANGLIOMAS 4

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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