Variant position: 105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 339 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 TLPTLPAKVYVGVKQEIAEM RIPALNAYMKSLLSLPVWVLM
Mouse SLPTLPAKVYMGAKQEIAET RIPALNAYMKNLLSLPVCVLM
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 – 339 Neutrophil cytosol factor 4
19 – 140 PX
92 – 92 K -> A. Abolishes interaction with membranes enriched in phosphatidylinositol 3-phosphate.
94 – 94 Y -> A. Slightly reduces interaction with membranes enriched in phosphatidylinositol 3-phosphate.
105 – 105 R -> A. Abolishes interaction with membranes enriched in phosphatidylinositol 3-phosphate.
98 – 116
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity.
Matute J.D.; Arias A.A.; Wright N.A.; Wrobel I.; Waterhouse C.C.; Li X.J.; Marchal C.C.; Stull N.D.; Lewis D.B.; Steele M.; Kellner J.D.; Yu W.; Meroueh S.O.; Nauseef W.M.; Dinauer M.C.;
Cited for: VARIANT CGD3 GLN-105; CHARACTERIZATION OF VARIANT CGD3 GLN-105;
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