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UniProtKB/Swiss-Prot Q15833: Variant p.Arg292His

Syntaxin-binding protein 2
Gene: STXBP2
Variant information

Variant position:  292
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 Arginine (R) to Histidine (H) at position 292 (R292H, p.Arg292His).
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 medium size and polar (H)
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

Variant description:  In FHL5; leads to a complete loss of the ability to interact with STX11.
Any additional useful information about the variant.

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



Sequence information

Variant position:  292
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  593
The length of the canonical sequence.

Location on the sequence:   SEAREKAVLLDEDDDLWVEL  R HMHIADVSKKVTELLRTFCE
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                         SEAREKAVLLDEDDDLWVELRHMHIADVSKKVTELLRTFCE

                              SEAREKAVLLDEDDDLWVELRHMHIADVSKKVTELLKTFCE

Mouse                         SESREKAVLLDEDDDLWVELRHMHIADVSKKVTELLKTFCE

Rat                           SESREKAVLLDEDDDLWVELRHMHIADVSKKVTELLKTFCE

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 – 593 Syntaxin-binding protein 2


Literature citations

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
zur Stadt U.; Rohr J.; Seifert W.; Koch F.; Grieve S.; Pagel J.; Strauss J.; Kasper B.; Nuernberg G.; Becker C.; Maul-Pavicic A.; Beutel K.; Janka G.; Griffiths G.; Ehl S.; Hennies H.C.;
Am. J. Hum. Genet. 85:482-492(2009)
Cited for: FUNCTION; INTERACTION WITH STX11; VARIANTS FHL5 PRO-209; ILE-232 DEL; HIS-292; TRP-405; GLN-405 AND LEU-477; CHARACTERIZATION OF VARIANTS FHL5 ILE-232 DEL; HIS-292; TRP-405; GLN-405 AND LEU-477;

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.