UniProtKB/Swiss-Prot P19878: Variant p.His389Gln

Neutrophil cytosol factor 2
Gene: NCF2
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Variant information Variant position:

389 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Histidine (H) to Glutamine (Q) at position 389 (H389Q, p.His389Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs17849502 [ dbSNP | Ensembl ]

Sequence information Variant position:

389 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:

GLPYSQVRDMVSKKLELRLE H TKLSYRPRDSNELVPLSEDS 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                         GLPYSQVRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDS

Mouse                         GLPYSQLRNMVSKKLALSPEHTKLSYRRRDSHELLLLSEES

Rat                           GLPYSQLRNMVSKKLELLPEHTKLSYQRRDSPELLLLSEES

Bovine                        RLPYSQVRDMVAKKLDLLPEHTKLSYRRQDSNELVPLSEFS

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
Chain	1 – 526	Neutrophil cytosol factor 2
Domain	351 – 429	PB1
Modified residue	399 – 399	Phosphoserine
Helix	387 – 389

Literature citations
Expression of a p67(phox) homolog in Caco-2 cells giving O(2)(-)-reconstituting ability to cytochrome b(558) together with recombinant p47(phox).
Yoshida L.S.; Nishida S.; Shimoyama T.; Kawahara T.; Rokutan K.; Tsunawaki S.;
Biochem. Biophys. Res. Commun. 296:1322-1328(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBUNIT; VARIANTS ARG-181; LYS-328 AND GLN-389; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS ARG-181 AND GLN-389; Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
Patino P.J.; Rae J.; Noack D.; Erickson R.; Ding J.; Garcia de Olarte D.; Curnutte J.T.;
Blood 94:2505-2514(1999)
Cited for: VARIANT CGD2 19-LYS--ASP-21 DEL; VARIANTS VAL-79; ARG-181; LYS-328; GLN-389 AND TRP-395; 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;

Disclaimer: 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.