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Results for the Protein: P21912
20455488

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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Swiss-Prot Protein: P21912
Identical to: NP_002991
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11203289 Polymorphismp.ALA3GLYN/A
Swiss-ProtVAR_054376Diseasep.ALA43PROPheochromocytoma (PCC)
Swiss-ProtVAR_054383Diseasep.ARG230CYSPheochromocytoma (PCC)
Swiss-ProtVAR_054377Diseasep.ARG46GLNPheochromocytoma (PCC)
Swiss-ProtVAR_035064Diseasep.ARG46GLYPheochromocytoma (PCC)
Swiss-ProtVAR_017869Diseasep.ARG242HISPheochromocytoma (PCC)
Swiss-ProtVAR_035066Diseasep.CYS192ARGPheochromocytoma (PCC)
Swiss-ProtVAR_035065Diseasep.CYS101TYRPheochromocytoma (PCC)
Swiss-ProtVAR_035067Diseasep.CYS196TYRPheochromocytoma (PCC)
Swiss-ProtVAR_054378Diseasep.GLY53ARGPheochromocytoma (PCC)
Swiss-ProtVAR_037621Diseasep.HIS132PROParagangliomas 4 (PGL4)
Swiss-ProtVAR_054381Diseasep.ILE127ASNPheochromocytoma (PCC)
Swiss-ProtVAR_054379Diseasep.LEU65HISPheochromocytoma (PCC)
Swiss-ProtVAR_054380Diseasep.LEU65PROPheochromocytoma (PCC)
Swiss-ProtVAR_018517Diseasep.LEU87SERPheochromocytoma (PCC)
Swiss-ProtVAR_054375Polymorphismp.LYS40GLUN/A
Swiss-ProtVAR_018518Diseasep.PRO131ARGParagangliomas 4 (PGL4)
Swiss-ProtVAR_017868Diseasep.PRO197ARGParagangliomas 4 (PGL4)
Swiss-ProtVAR_037620Diseasep.SER100PHEPheochromocytoma (PCC)
Swiss-ProtVAR_054382Polymorphismp.SER163PRON/A
OMIM185470.0014 Diseasep.ALA3GLYCOWDEN DISEASE 2
OMIM185470.0008 Diseasep.ARG46GLYPHEOCHROMOCYTOMA
OMIM185470.0004 Diseasep.ARG242HISPARAGANGLIOMAS 4||PHEOCHROMOCYTOMA, INCLUDED;;||GASTROINTESTINAL STROMAL TUMOR, INCLUDED
OMIM185470.0006 Diseasep.ARG27TERPARAGANGLIOMAS 4||PHEOCHROMOCYTOMA, INCLUDED
OMIM185470.0001 Diseasep.ARG90TERPARAGANGLIOMAS 4
OMIM185470.0020 Diseasep.ASP48VALVARIANT OF UNKNOWN SIGNIFICANCE
OMIM185470.0009 Diseasep.CYS101TYRPHEOCHROMOCYTOMA
OMIM185470.0010 Diseasep.HIS132PROPARAGANGLIOMAS 4
OMIM185470.0002 Diseasep.PRO197ARGPARAGANGLIOMAS 4
OMIM185470.0011 Diseasep.SER100PHEPHEOCHROMOCYTOMA
OMIM185470.0015 Diseasep.SER163PROCOWDEN DISEASE 2
OMIM185470.0016 Diseasep.VAL140PHEPARAGANGLIOMAS 4



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