UniProtKB/Swiss-Prot P19878: Variant p.Arg395Trp

Neutrophil cytosol factor 2
Gene: NCF2
Feedback?

Variant information Variant position:

395 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 Arginine (R) to Tryptophan (W) at position 395 (R395W, p.Arg395Trp). 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:

Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Variant description:

Impairs interaction with NCF4. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs13306575 [ dbSNP | Ensembl ]

Sequence information Variant position:

395 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:

VRDMVSKKLELRLEHTKLSY R PRDSNELVPLSEDSMKDAWG 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                         VRDMVSKKLELRLEHTKLSYRPRDSNELVPLSEDSMKDAWG

Mouse                         LRNMVSKKLALSPEHTKLSYRRRDSHELLLLSEESMKDAWG

Rat                           LRNMVSKKLELLPEHTKLSYQRRDSPELLLLSEESMKDAWA

Bovine                        VRDMVAKKLDLLPEHTKLSYRRQDSNELVPLSEFSMKDAWA

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

Literature citations
PB1 domain-mediated heterodimerization in NADPH oxidase and signaling complexes of atypical protein kinase C with Par6 and p62.
Wilson M.I.; Gill D.J.; Perisic O.; Quinn M.T.; Williams R.L.;
Mol. Cell 12:39-50(2003)
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 352-429 IN COMPLEX WITH NCF4; SUBUNIT; CHARACTERIZATION OF VARIANT TRP-395; INTERACTION WITH NCF4; 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;

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.