Results for the protein: Q9Y276

Results for the Protein: Q9Y276

46397351

617

BCS1L

NCBI, UniProt

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 ↕
AAA	pfam00004	6.2e-25	226	355
BCS1_N	pfam08740	1.6e-79	23	191
AAA	smart00382	8.1e-11	222	357

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064617	Disease	p.ARG183CYS	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_032090	Disease	p.ARG184CYS	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_032087	Disease	p.ARG45CYS	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_064616	Disease	p.ARG73CYS	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_018160	Disease	p.ARG144GLN	GRACILE syndrome (GRACILE)
Swiss-Prot	VAR_032089	Disease	p.ARG183HIS	Bjoernstad syndrome (BJS)
Swiss-Prot	VAR_032092	Disease	p.ARG306HIS	Bjoernstad syndrome (BJS)
Swiss-Prot	VAR_018161	Disease	p.ARG155PRO	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_032088	Disease	p.ARG114TRP	Bjoernstad syndrome (BJS)
dbSNP	rs33946522	Polymorphism	p.ASN332LYS	N/A
dbSNP	rs58447305	Polymorphism	p.ASP210ASN	N/A
Swiss-Prot	VAR_032091	Disease	p.GLN302GLU	Bjoernstad syndrome (BJS)
Swiss-Prot	VAR_032086	Disease	p.GLY35ARG	Bjoernstad syndrome (BJS)
Swiss-Prot	VAR_064618	Disease	p.PHE368ILE	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_018159	Disease	p.PRO99LEU	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_018162	Disease	p.SER277ASN	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_018149	Disease	p.SER78GLY	GRACILE syndrome (GRACILE)
Swiss-Prot	VAR_064615	Disease	p.THR50ALA	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
Swiss-Prot	VAR_018163	Disease	p.VAL327ALA	GRACILE syndrome (GRACILE)
Swiss-Prot	VAR_018164	Disease	p.VAL353MET	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1)
OMIM	603647.0012	Disease	p.ARG183CYS	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM	603647.0009	Disease	p.ARG184CYS	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY\|\|MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1,
OMIM	603647.0006	Disease	p.ARG45CYS	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM	603647.0008	Disease	p.ARG183HIS	BJORNSTAD SYNDROME
OMIM	603647.0003	Disease	p.ARG155PRO	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM	603647.0007	Disease	p.ARG56TER	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM	603647.0010	Disease	p.GLY35ARG	BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
OMIM	603647.0002	Disease	p.PRO99LEU	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX III DEFICIENCY
OMIM	603647.0001	Disease	p.SER277ASN	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM	603647.0005	Disease	p.SER78GLY	GRACILE SYNDROME
OMIM	603647.0011	Disease	p.THR50ALA	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
OMIM	603647.0004	Disease	p.VAL353MET	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258