Variant position: 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 526 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 KAFTRSINRDKHLAVAYFQR GMLYYQTEKYDLAIKDLKEAL
Mouse QAFTKSINRDKHSAVAYFQR GMLYYRMEKYDLAIKDLKEAL
Rat QAFTKSINRDKHLAVAYFQR GMLYYSMEKYRPASVGRKAAL
Bovine KAFTKSINRDKHLAVSYFQR GMLYYQMEKYDSAIKDLKEAL
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.
Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.
de Boer M.; Hilarius-Stokman P.M.; Hossle J.P.; Verhoeven A.J.; Graf N.; Kenney R.T.; Seger R.; Roos D.;
Cited for: VARIANT CGD2 GLU-78;
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