Variant position: 331 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 YWLNNYVFK------NALRLGTFSAV LVTYAASALLHGFSFHLAAVL
Mouse YWLNNYVFK------NALRLGTFSAV LVTYAASALLHGFSF
Caenorhabditis elegans TFLHENIFK------RRLFNSTACNV FFTFAVSSLLHGLDF
Drosophila EWLKRYIYAPCKPTASTSRGRILVVV LSTYLVSSLLHGMDL
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
274 – 337 Cytoplasmic
341 – 341
341 – 341 H -> A. Loss of function.
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G.; Govaerts K.; Van Esch H.; Verbeeck J.; Tuomi M.L.; Heikkila H.; Torniainen S.; Devriendt K.; Fryns J.P.; Marynen P.; Jarvela I.; Ala-Mello S.;
Clin. Genet. 76:535-543(2009)
Cited for: VARIANTS FODH ARG-331 AND GLN-365;
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