Variant position: 361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 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 HGFSFHLAAVLLSLAFITYV EHVLRKRLARILSACVLSKRC
Mouse HGFSFHLAAVLLSLAFITYV EHVLRKRLAQILSACILSKRC
Caenorhabditis elegans HGLDFQMTITLLALGFIAYS ETVFRKRLSARYSMCVAAKAC
Drosophila HGMDLRIYLVLISLAFLAEG ESLLRRQLASLLNACITANLC
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 – 461 Protein-serine O-palmitoleoyltransferase porcupine
359 – 396 Extracellular
341 – 341
341 – 341 H -> A. Loss of function.
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Harmsen M.B.; Azzarello-Burri S.; Garcia Gonzalez M.M.; Gillessen-Kaesbach G.; Meinecke P.; Muller D.; Rauch A.; Rossier E.; Seemanova E.; Spaich C.; Steiner B.; Wieczorek D.; Zenker M.; Kutsche K.;
Eur. J. Hum. Genet. 17:1207-1215(2009)
Cited for: VARIANTS FODH VAL-361 AND TYR-385;
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