Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9Y276
46397351
617

BCS1_HUMAN RecName: Full=Mitochondrial chaperone BCS1; Short=h-BCS1; AltName: Full=BCS1-like protein

Known Diseases associated with this Protein:
  BJOERNSTAD SYNDROME (BJS)
  BJORNSTAD SYNDROME
  BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
  GRACILE SYNDROME
  GRACILE SYNDROME (GRACILE)
  LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY
  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR 1 (MC3DN1)
  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1,
30
2
12
2
18
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

BCS1_N - pfam08740
AAA - cd00009
AAA - smart00382
AAA - pfam00004


Swiss-Prot Protein: Q9Y276
Identical to: NP_004319, NP_001073335
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
AAAcd000093.3e-09196355
AAApfam000046.2e-25226355
BCS1_Npfam087401.6e-7923191
AAAsmart003828.1e-11222357

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064617Diseasep.ARG183CYSMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_032090Diseasep.ARG184CYSMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_032087Diseasep.ARG45CYSMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_064616Diseasep.ARG73CYSMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_018160Diseasep.ARG144GLNGRACILE syndrome (GRACILE)
Swiss-ProtVAR_032089Diseasep.ARG183HISBjoernstad syndrome (BJS)
Swiss-ProtVAR_032092Diseasep.ARG306HISBjoernstad syndrome (BJS)
Swiss-ProtVAR_018161Diseasep.ARG155PROMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_032088Diseasep.ARG114TRPBjoernstad syndrome (BJS)
dbSNPrs33946522 Polymorphismp.ASN332LYSN/A
dbSNPrs58447305 Polymorphismp.ASP210ASNN/A
Swiss-ProtVAR_032091Diseasep.GLN302GLUBjoernstad syndrome (BJS)
Swiss-ProtVAR_032086Diseasep.GLY35ARGBjoernstad syndrome (BJS)
Swiss-ProtVAR_064618Diseasep.PHE368ILEMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_018159Diseasep.PRO99LEUMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_018162Diseasep.SER277ASNMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_018149Diseasep.SER78GLYGRACILE syndrome (GRACILE)
Swiss-ProtVAR_064615Diseasep.THR50ALAMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-ProtVAR_018163Diseasep.VAL327ALAGRACILE syndrome (GRACILE)
Swiss-ProtVAR_018164Diseasep.VAL353METMitochondrial complex III deficiency, nuclear 1 (MC3DN1)
OMIM603647.0012 Diseasep.ARG183CYSMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM603647.0009 Diseasep.ARG184CYSBJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY||MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1,
OMIM603647.0006 Diseasep.ARG45CYSMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM603647.0008 Diseasep.ARG183HISBJORNSTAD SYNDROME
OMIM603647.0003 Diseasep.ARG155PROMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM603647.0007 Diseasep.ARG56TERMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM603647.0010 Diseasep.GLY35ARGBJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
OMIM603647.0002 Diseasep.PRO99LEULEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY
OMIM603647.0001 Diseasep.SER277ASNMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM603647.0005 Diseasep.SER78GLYGRACILE SYNDROME
OMIM603647.0011 Diseasep.THR50ALAMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM603647.0004 Diseasep.VAL353METMITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258