Variant position: 206 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 YTSKENTVLRAALNPEIVSV IPNAVDPTDFTPDPFRRHDS-I
Mouse YTSKENTVLRAALNPEIVSV IPNAVDPTDFTPDPFRRHDSV
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.
115 – 283 Missing. In isoform 2.
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Kato M.; Saitsu H.; Murakami Y.; Kikuchi K.; Watanabe S.; Iai M.; Miya K.; Matsuura R.; Takayama R.; Ohba C.; Nakashima M.; Tsurusaki Y.; Miyake N.; Hamano S.; Osaka H.; Hayasaka K.; Kinoshita T.; Matsumoto N.;
Cited for: VARIANTS MCAHS2 LEU-77; TRP-119 AND PHE-206;
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