Variant position: 331 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 373 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 SMNSLSSVSLPLAK---------IIPIVN GQIHSVCSETPSHFVQDLLTM
Mouse SINSLSSVSLPLAK---------IIPIVN GQIHSVCSETPS
Rat SINSLSSVSLPLAK---------IIPIVN GQIHSVCSETPS
Bovine SINSLSSVSLPLAK---------IIPIIN GQIHSVCSETPS
Slime mold IVLPDLPIEMEIPKPLVTMHNIILLPKIN KQIGNIIVNKKS
Baker's yeast QQYQMAVFAMSMKD--------CCQEMLQ TTAGSSHSGSVN
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 – 373 Peroxisomal biogenesis factor 3
141 – 373 Cytoplasmic
Novel PEX3 gene mutations resulting in a moderate Zellweger spectrum disorder.
Maxit C.; Denzler I.; Marchione D.; Agosta G.; Koster J.; Wanders R.J.; Ferdinandusse S.; Waterham H.R.;
JIMD Rep. 34:71-75(2017)
Cited for: INVOLVEMENT IN PBD10B; VARIANT PBD10B ARG-331;
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