Variant position: 849 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 980 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 LLAELDGLHSTQD--VFVIGAT NRPDLLDPALLRPGRFDKLVF
Mouse LLAELDGLHSTQD--VFVIGAT NRPDLLDPALLRPGRFDKL
Rat LLAELDGLHSTQD--VFVIGAT NRPDLLDPALLRPGRFDKL
Slime mold LLAELDGMQKSSD--VFIIGAT NRPDLLDSSLMRPGRLDRL
Baker's yeast LLAELDGMSTDADG-VFVIGAT NRPDLLDEALLRPGRFDKL
Fission yeast LLAELDSISKDNNKYVFVIGAT NRPDLLDPSLLRPGRFDKL
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 – 980 Peroxisome assembly factor 2
739 – 980 Missing. In isoform 2.
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik W.Y.; Steinberg S.J.; Moser A.B.; Moser H.W.; Hacia J.G.;
Hum. Mutat. 30:E467-E480(2009)
Cited for: INVOLVEMENT IN PBD-CG4; INVOLVEMENT IN HMLR2; VARIANTS PBD-CG4 THR-849; GLN-860 AND TRP-860; VARIANTS HMLR2 LEU-274 AND GLN-601; VARIANTS PRO-79; VAL-809; ILE-882; SER-924 AND GLN-939;
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.