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UniProtKB/Swiss-Prot P19878: Variant p.Trp137Arg

Neutrophil cytosol factor 2
Gene: NCF2
Variant information

Variant position:  137
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Tryptophan (W) to Arginine (R) at position 137 (W137R, p.Trp137Arg).
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 aromatic (W) to large size and basic (R)
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:  In CGD2.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  137
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:   KLFACEVLYNIAFMYAKKEE  W KKAEEQLALATSMKSEPRHS
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                         KLFACEVLYNIAFMYAKKEEWKKAEEQLALATSMKSEPRHS

Mouse                         KLFACEVLYNIALMHAKKEEWKKAEEQLALATNMKSEPRHS

Rat                           PLSPGKVLYNIALMHAKKEEWKKAEEQLALATNMKSEPRHS

Bovine                        KLFACEVLYNIAFMYAKREEWKKAEEHLALAVSMKSEPRHS

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.

TypePositionsDescription
Chain 1 – 526 Neutrophil cytosol factor 2
Repeat 121 – 154 TPR 3
Alternative sequence 123 – 203 Missing. In isoform 2 and isoform 4.
Alternative sequence 123 – 167 Missing. In isoform 3.
Helix 137 – 148


Literature citations

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;

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.