Variant position: 16 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 MYQVPLP-LDRDG-TLV RLRFTMVALVTVCCPLVAFLF
Mouse MYQVPLT-LDRDG-TLV RLRFTMVALITVCCPLVAF
Rat MYQVPLT-LDRDG-TLV RLRFTMVALITVCCPLVAF
Bovine MYQVPLP-LDRDG-TLV RLRFTLVALVTVCCPLVAF
Xenopus laevis MVPISMA-PDRGANSLV SLRFTTFAVSTVCLPLFAF
Xenopus tropicalis --MVPVG-PERGANSLF SLRFTTFAVGTVSLPLFAF
Zebrafish MQQVPYGSVDRDK-PLI RVPFTRLAVITVCLPLLGL
Caenorhabditis elegans --------MAFGDDDIL SIPFKYFVICIGGLPSSAL
Drosophila MLPTYERFSDPKS-VLF RLPFARLALVALSLPLGGF
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
1 – 23 Cytoplasmic
1 – 1 M -> MARLGSTGGVSGRVVTQHRDSAPFLGAPRLGLRELGPIRGTAPEWHGRWNAAERSDKM. In isoform 5.
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;
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.