Variant position: 160 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 254 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 TIHENAFIVFIASSLGHMLL TCILWRLTKKHTVSQEDRKSY
Mouse TIHENAFIVFIAASLGYMLL TCILWRLTKKHTVSQEDRKSY
Rat TIHENAFIVFIAASLSYMLL TCILWRLTKKHTVSQEDRKSY
Bovine TIHENAFIVFIASSLSHMLL TCILWRLTKKHTVSQEDRKSY
Xenopus laevis EVHKLGFMSFMFFSLGYMFV TCTLWRMTRKWSGSPEERTSY
Xenopus tropicalis EVHKLGFMAFMLFSVGYMFV TCSLWRVARKGSGSLEERTSY
Zebrafish SVHKSGFILFIGSSLFHMLC TCKLWSLIVKYSISSEEMMSY
Caenorhabditis elegans SLHAKCFGGFAICSIIYMLL STWLFNETGRRTATNLGQRSH
Drosophila ETHRNAFVVFIACSECYMLV SYLLNRNIQKTVLLPHEEKSL
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 – 254 Post-GPI attachment to proteins factor 2
144 – 164 Helical
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Krawitz P.M.; Murakami Y.; Riess A.; Hietala M.; Kruger U.; Zhu N.; Kinoshita T.; Mundlos S.; Hecht J.; Robinson P.N.; Horn D.;
Am. J. Hum. Genet. 92:584-589(2013)
Cited for: VARIANTS HPMRS3 TRP-16; SER-127 AND ILE-160;
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