Variant position: 195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 260 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 LLLERDVDINIYDWNGGTPL LYAVRGNHVKCVEALLARGAD
Mouse LLLDRDVDINIYDWNGGTPL LYAVRGNHVKCVEALLARGAD
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.
Sequence-specific recognition of a PxLPxI/L motif by an ankyrin repeat tumbler lock.
Xu C.; Jin J.; Bian C.; Lam R.; Tian R.; Weist R.; You L.; Nie J.; Bochkarev A.; Tempel W.; Tan C.S.; Wasney G.A.; Vedadi M.; Gish G.D.; Arrowsmith C.H.; Pawson T.; Yang X.J.; Min J.;
Sci. Signal. 5:RA39-RA39(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (1.57 ANGSTROMS) OF 90-260 IN COMPLEX WITH RFX5 PEPTIDE; CHARACTERIZATION OF VARIANT BLS2 PRO-195; MUTAGENESIS OF ASP-121 AND TYR-224;
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
Nagarajan U.M.; Peijnenburg A.; Gobin S.J.; Boss J.M.; van den Elsen P.J.;
J. Immunol. 164:3666-3674(2000)
Cited for: VARIANT BLS2 PRO-195; FUNCTION;
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.