Variant position: 477 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:
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 SSRLEPRERMEPTYQLSRWT PVIKDVMEDAVEDRLDRNLWP
Mouse SSRLERRERMEPTYQLSRWS PVIKDVMEDVVEDRLDRKLWP
Rat SSRLERRERMEPTYQLSRWS PVIKDVMEDVVEDRLDRKLWP
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
1 – 593 Syntaxin-binding protein 2
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;
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Cote M.; Menager M.M.; Burgess A.; Mahlaoui N.; Picard C.; Schaffner C.; Al-Manjomi F.; Al-Harbi M.; Alangari A.; Le Deist F.; Gennery A.R.; Prince N.; Cariou A.; Nitschke P.; Blank U.; El-Ghazali G.; Menasche G.; Latour S.; Fischer A.; de Saint Basile G.;
J. Clin. Invest. 119:3765-3773(2009)
Cited for: FUNCTION; INTERACTION WITH STX11; VARIANT FHL5 LEU-477;
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.