UniProtKB/Swiss-Prot P14598: Variant p.Ala308Val

Neutrophil cytosol factor 1
Gene: NCF1
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Variant information Variant position:

308 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 Alanine (A) to Valine (V) at position 308 (A308V, p.Ala308Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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 rs13739 [ dbSNP | Ensembl ]

Sequence information Variant position:

308 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

390 The length of the canonical sequence.
Location on the sequence:

SQAQRQIKRGAPPRRSSIRN A HSIHQRSRKRLSQDAYRRNS 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                         SQAQRQIK-RGAPPRRSSIRNAHSIHQRSRKRLSQDAYRRNS

Mouse                         TQAQRQIRGRGAPPRRSTIRNAQSIHQRSRKRLSQDTYRRN

Rat                           TQAQRQIRSRGAPPRRSTIRNAQSIHQRSRKRLSQDTYRRN

Bovine                        AQAKSQIKSRGAPPRRSSIRNAHSIHQRSRKRLSQDTYRRN

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 – 390	Neutrophil cytosol factor 1
Region	285 – 390	Disordered
Modified residue	303 – 303	Phosphoserine
Modified residue	304 – 304	Phosphoserine
Modified residue	320 – 320	Phosphoserine
Modified residue	328 – 328	Phosphoserine
Alternative sequence	194 – 390	Missing. In isoform 2.
Mutagenesis	303 – 303	S -> E. Abolishes autoinhibition and promotes phospholipid binding; when associated with E-304; E-328; E-359 and E-370.
Mutagenesis	304 – 304	S -> E. Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-328; E-359 and E-370.
Mutagenesis	328 – 328	S -> E. Abolishes autoinhibition and promotes phospholipid binding; when associated with E-303; E-304; E-359 and E-370.

Literature citations
A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease.
Gorlach A.; Lee P.L.; Roesler J.; Hopkins P.J.; Christensen B.; Green E.D.; Chanock S.J.; Curnutte J.T.;
J. Clin. Invest. 100:1907-1918(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-160 AND VAL-308; Genomic structure of the human p47-phox (NCF1) gene.
Chanock S.J.; Roesler J.; Zhan S.; Hopkins P.; Lee P.; Barrett D.T.; Christensen B.L.; Curnutte J.T.; Goerlach A.;
Blood Cells Mol. Dis. 26:37-46(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-160 AND VAL-308;

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.