Variant position: 308 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 555 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 SASSSYYLDMHSLPHVINPV ESRLGSSAASLYPVLNFLLYV
Mouse PASSSYSLAMHSLPHVINPV ESRLGSSAASLYPVLHFLLYV
Rat PASSSYSLAMHSLPHVINPV ESRLGSSAASLYPVLNFLLYV
Bovine SASSSYYLAAHSLPHVINPV ESRLGSSAASLYPVLNFLLYV
Fission yeast IKDDKFCTKHADLPNLVNNF EKYLSFSPHIREPTIHFVLYV
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
2 – 555 GPI transamidase component PIG-S
40 – 520 Lumenal
Mutations in PIGS, encoding a GPI transamidase, cause a neurological syndrome ranging from fetal akinesia to epileptic encephalopathy.
Nguyen T.T.M.; Murakami Y.; Wigby K.M.; Baratang N.V.; Rousseau J.; St-Denis A.; Rosenfeld J.A.; Laniewski S.C.; Jones J.; Iglesias A.D.; Jones M.C.; Masser-Frye D.; Scheuerle A.E.; Perry D.L.; Taft R.J.; Le Deist F.; Thompson M.; Kinoshita T.; Campeau P.M.;
Am. J. Hum. Genet. 103:602-611(2018)
Cited for: INVOLVEMENT IN GPIBD18; VARIANTS GPIBD18 PRO-34; 36-TRP--ASP-555 DEL; GLY-308 AND 439-THR--LYS-451 DELINS ARG-LEU-LEU; PATHWAY; FUNCTION;
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.