Sequence information
Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 328 The length of the canonical sequence.
Location on the sequence:
KTAGGLIYWIGLTKAGMEGD
W SWVDDTPFNKVQSVRFWIPG
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 KTAGGLIYWIGLTKAGMEGDW SWVDDTPFNKVQSVRFWIPG
Mouse KAADGIPHWIGLTKAGSEGDW YWVDQTSFNKEQSRRFWIPG
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.
Literature citations
A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene.
Verdijk P.; Dijkman R.; Plasmeijer E.I.; Mulder A.A.; Zoutman W.H.; Mieke Mommaas A.; Tensen C.P.;
J. Invest. Dermatol. 124:714-717(2005)
Cited for: VARIANT BIRGD ARG-264;
Polymorphisms in human langerin affect stability and sugar binding activity.
Ward E.M.; Stambach N.S.; Drickamer K.; Taylor M.E.;
J. Biol. Chem. 281:15450-15456(2006)
Cited for: VARIANTS ALA-278; ASP-288 AND PRO-300; CHARACTERIZATION OF VARIANT BIRGD ARG-264; CHARACTERIZATION OF VARIANTS ALA-278; ASP-288 AND PRO-300;
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.