Variant position: 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 484 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 AYGNRKGIRYLTSGLKVYYL PLKVMYNQSTATTLFHSLPLL
Mouse AYGNRKGVRYLTNGLKVYYL PLRVMYNQSTATTLFHSLPLL
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 – 484 Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
1 – 421 Cytoplasmic
5 – 238 Missing. In isoform 3.
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben S.N.; Harakalova M.; Brilstra E.H.; van Berkestijn F.M.; Hofstede F.C.; van Vught A.J.; Cuppen E.; Kloosterman W.; Ploos van Amstel H.K.; van Haaften G.; van Haelst M.M.;
Am. J. Med. Genet. A 164A:29-35(2014)
Cited for: VARIANT MCAHS2 LEU-93;
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