Variant position: 177 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 MLLTCILWRLTKKHTVSQED RKSYSWKQRLFIINFISFFSA
Mouse MLLTCILWRLTKKHTVSQED RKSYSWKQRLFVINFISFFSA
Rat MLLTCILWRLTKKHTVSQED RKSYSWKQRLFIINFISFFSA
Bovine MLLTCILWRLTKKHTVSQED RKSYNWKQRLFIINFVSFFTA
Xenopus laevis MFVTCTLWRMTRKWSGSPEE RTSYAWKKRLFGFYLLMFLAS
Xenopus tropicalis MFVTCSLWRVARKGSGSLEE RTSYAWKKRLFGFYLLMFLSS
Zebrafish MLCTCKLWSLIVKYSISSEE MMSYWFKLRLFLFNGGCCVLA
Caenorhabditis elegans MLLSTWLFNETGRRTATNLG QRSHEYKILGAAIFVLCFFLG
Drosophila MLVSYLLNRNIQKTVLLPHE EKSLRYKRNLFLVNVIAFGLA
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
165 – 185 Lumenal
176 – 232 DRKSYSWKQRLFIINFISFFSALAVYFRHNMYCEAGVYTIFAILEYTVVLTNMAFHM -> VRSIPSGGSKAAQKKIKDICPQDSGSQVLQLETAALHHQLHLLLLGAGCLLSAQHVL. In isoform 4.
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;
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.