Variant position: 77 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 EKAFTRSINRDKHLAVAYFQ RGMLYYQTEKYDLAIKDLKEA
Mouse EQAFTKSINRDKHSAVAYFQ RGMLYYRMEKYDLAIKDLKEA
Rat EQAFTKSINRDKHLAVAYFQ RGMLYYSMEKYRPASVGRKAA
Bovine EKAFTKSINRDKHLAVSYFQ RGMLYYQMEKYDSAIKDLKEA
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 caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.
Noack D.; Rae J.; Cross A.R.; Munoz J.; Salmen S.; Mendoza J.A.; Rossi N.; Curnutte J.T.; Heyworth P.G.;
Hum. Genet. 105:460-467(1999)
Cited for: INVOLVEMENT IN CGD2; VARIANTS CGD2 GLN-77 AND VAL-128; VARIANTS ARG-181; ARG-369 AND GLN-389;
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D.; Kuhns D.B.; Maddalena A.; Bustamante J.; Kannengiesser C.; de Boer M.; van Leeuwen K.; Koker M.Y.; Wolach B.; Roesler J.; Malech H.L.; Holland S.M.; Gallin J.I.; Stasia M.J.;
Blood Cells Mol. Dis. 44:291-299(2010)
Cited for: VARIANTS CGD2 SER-42; CYS-44; LYS-58 DEL; GLN-77; GLU-96 DEL; PRO-102; ARG-137; ASP-140; GLU-169; PRO-184 AND LYS-196 DEL; VARIANT ILE-419;
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.