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Results for the Protein: NP_001263433
452405678

succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform c precursor [Homo sapiens]

Known Diseases associated with this Protein:
  CARCINOID TUMORS, INTESTINAL, INCLUDED;;
  COWDEN DISEASE 3
  PARAGANGLIOMA, CAROTID BODY, SOMATIC
  PARAGANGLIOMAS 1
  PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS, INCLUDED
  PARAGANGLIOMAS 1, INCLUDED;;
  PHEOCHROMOCYTOMA
  PHEOCHROMOCYTOMA, INCLUDED
  PHEOCHROMOCYTOMA, SOMATIC, INCLUDED;;
11
0
11
0
0
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Default View:

CybS - pfam05328
SQR_TypeC_CybS - cd03496
SQR_QFR_TM - cd03493




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SQR_QFR_TMcd034937.2e-1028102
CybSpfam053281.2e-4918119

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM602690.0004 Diseasep.ASP53TYRPARAGANGLIOMAS 1||PHEOCHROMOCYTOMA, INCLUDED
OMIM602690.0025 Diseasep.CYS11TERPHEOCHROMOCYTOMA
OMIM602690.0011 Diseasep.GLY12SERCOWDEN DISEASE 3||PARAGANGLIOMAS 1, INCLUDED;;||CARCINOID TUMORS, INTESTINAL, INCLUDED;;||PHEOCHROMOCYTOMA, INCLUDED
OMIM602690.0028 Diseasep.HIS106ASNCOWDEN DISEASE 3
OMIM602690.0005 Diseasep.HIS63LEUPARAGANGLIOMAS 1
OMIM602690.0016 Diseasep.LEU100PROPARAGANGLIOMAS 1
OMIM602690.0015 Diseasep.MET1ILEPARAGANGLIOMAS 1
OMIM602690.0021 Diseasep.MET1VALPARAGANGLIOMA, CAROTID BODY, SOMATIC
OMIM602690.0003 Diseasep.PRO42LEUPARAGANGLIOMAS 1||PHEOCHROMOCYTOMA, SOMATIC, INCLUDED;;||PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS, INCLUDED
OMIM602690.0026 Diseasep.TRP5TERPHEOCHROMOCYTOMA
OMIM602690.0007 Diseasep.TYR75CYSPARAGANGLIOMAS 1



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