Variant position: 99 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 FCIGLHSAPRFLVAFAYWNH YLSCTSPCSC----YRPLCRLNFGL
Mouse FCIGLHSAPRFLTAFAYWNH YLSCASPCPG----YRLLCRI
Rat FCIGLHSAPRFLTAFAYWNH YLSCASPCPG----YRLLCRL
Bovine FCIGLHSAPRFLVAFAYWNH YLSCTSPCAG----YRPLCRL
Xenopus laevis LCIGLHSAPRFLVAMAYLKY YQGTPCSNPY----YPRLCHI
Xenopus tropicalis LCIGLHSAPRFLVGVAYLHY YQGTPCSSPA----YPRLCHL
Zebrafish FSIGLHSAPRFLVAAAYLSF YRGRFSRRLT----EQLLSGF
Caenorhabditis elegans ILIGLHIGPRLVVAIAFRNF LLGSPLRPLTGHKRLRFLCNL
Drosophila LAIFLHLPLRLAVAKIYLEH YREHIRRSR------RLLGIL
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
45 – 114 Lumenal
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L.; Tawamie H.; Murakami Y.; Mang Y.; ur Rehman S.; Buchert R.; Schaffer S.; Muhammad S.; Bak M.; Nothen M.M.; Bennett E.P.; Maeda Y.; Aigner M.; Reis A.; Kinoshita T.; Tommerup N.; Baig S.M.; Abou Jamra R.;
Am. J. Hum. Genet. 92:575-583(2013)
Cited for: VARIANTS HPMRS3 CYS-99 AND PRO-177; TOPOLOGY;
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