Variant position: 303 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 570 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 ERLVRFWRSQQKVVITKVVT HPFKTIELQMKKKGFKMEVGQ
Mouse ERLVRFWRSQQKVVITKVVT HPFKTIELQMKKKGFKMEVGQ
Bovine ERLVRFWRSQQKVVITKVVT HPFKTIELQMKKKGFKMEVGQ
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 – 570 Cytochrome b-245 heavy chain
283 – 570 Cytoplasmic
287 – 397 FAD-binding FR-type
Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.
Stasia M.J.; Lardy B.; Maturana A.; Rousseau P.; Martel C.; Bordigoni P.; Demaurex N.; Morel F.;
Biochim. Biophys. Acta 1586:316-330(2002)
Cited for: VARIANTS CGD ASN-303 AND ARG-304;
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.
Bionda C.; Li X.J.; van Bruggen R.; Eppink M.; Roos D.; Morel F.; Stasia M.-J.;
Hum. Genet. 115:418-427(2004)
Cited for: CHARACTERIZATION OF VARIANTS CGD ASN-303 AND ARG-304;
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