Variant position: 128 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 HSLPLLRYIFVRERVTIIHS HSSFSAMAHDALFHAKTMGLQ
Mouse HSLPLLRYIFVRERITIIHS HSSFSAMAHDALFHAKTMGLQ
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.
The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.
Nafa K.; Bessler M.; Castro-Malaspina H.; Jhanwar S.; Luzzatto L.;
Blood Cells Mol. Dis. 24:370-384(1998)
Cited for: VARIANTS PNH1 TRP-19; HIS-40; ALA-48; ASP-48; ARG-128 AND ARG-239;
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.