Results for the protein: Q13608

Results for the Protein: Q13608

12644408

5190

PEX6

NCBI, UniProt

PEX6_HUMAN RecName: Full=Peroxisome assembly factor 2; Short=PAF-2; AltName: Full=Peroxin-6; AltName: Full=Peroxisomal biogenesis factor 6; AltName: Full=Peroxisomal-type ATPase 1

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 4A (PBD4A)
  PEROXISOME BIOGENESIS DISORDER 4B
  PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 (PBD-CG4)

7

6

1

2

10

Tips:

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Default View: AAA - cd00009 SpoVK - COG0464 AAA - smart00382 NACHT - pfam05729 AAA - pfam00004 HflB - COG0465 RPT1 - COG1222 COG1223 - COG1223	Swiss-Prot Protein: Q13608 Identical to: NP_000278 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SpoVK	COG0464	4.1e-115	446	976
HflB	COG0465	2.4e-09	561	979
RPT1	COG1222	8.7e-33	566	971
COG1223	COG1223	6.5e-13	643	978
AAA	cd00009	1.5e-42	708	872
AAA	pfam00004	7.1e-24	466	595
AAA	pfam00004	2.1e-72	740	872
AAA	smart00382	7.8e-07	462	597
NACHT	pfam05729	0.00071	464	612
AAA	smart00382	3.8e-24	736	874

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058381	Polymorphism	p.ALA79PRO	N/A
Swiss-Prot	VAR_058387	Polymorphism	p.ALA924SER	N/A
dbSNP	rs35830695	Polymorphism	p.ALA809VAL	N/A
Swiss-Prot	VAR_058383	Polymorphism	p.ARG601GLN	N/A
Swiss-Prot	VAR_007918	Disease	p.ARG812GLN	Peroxisome biogenesis disorder 4A (PBD4A)
Swiss-Prot	VAR_058385	Disease	p.ARG860GLN	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Swiss-Prot	VAR_007919	Disease	p.ARG812TRP	Peroxisome biogenesis disorder 4A (PBD4A)
Swiss-Prot	VAR_058386	Disease	p.ARG860TRP	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Swiss-Prot	VAR_058384	Disease	p.ASN849THR	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)
dbSNP	rs1129187	Polymorphism	p.PRO939GLN	N/A
Swiss-Prot	VAR_058382	Disease	p.PRO274LEU	Peroxisome biogenesis disorder complementation group 4 (PBD-CG4)
Swiss-Prot	VAR_048115	Polymorphism	p.VAL882ILE	N/A
OMIM	601498.0009	Disease	p.LEU534PRO	PEROXISOME BIOGENESIS DISORDER 4B

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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