Variant position: 664 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1283 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LEVAFSEAVWM---------------QPSVVLLDD LDLIAGLPAVPEHEHSPDAVQ----
Mouse LEVAFSEAAWR---------------QPSVILLDD LDLIAG
Slime mold FNKLFYKSCKESGNTLSATTSTNTTPPPIIIILES LDLILG
Baker's yeast IMEWCSFCYWY---------------GPSLIVLDN VEALFG
Fission yeast WNNVFIQAERY---------------EPSIIYLDD VHCLIS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1283 Peroxisome biogenesis factor 1
Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
Tamura S.; Okumoto K.; Toyama R.; Shimozawa N.; Tsukamoto T.; Suzuki Y.; Osumi T.; Kondo N.; Fujiki Y.;
Proc. Natl. Acad. Sci. U.S.A. 95:4350-4355(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS PBD1A 634-GLY--HIS-690 DEL; PRO-664 AND ASP-843; VARIANTS PBD1B 634-GLY--HIS-690 DEL; PRO-664 AND ASP-843;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.