Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 218 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 FATRSIQVDGKTIKAQIWDT AGQERYRAITSAYYRGAVGAL
Mouse FATRSIQVDGKTIKAQIWDT AGQERYRAITSAYYRGAVGAL
Rat FATRSIQVDGKTIKAQIWDT AGQERYRAITSAYYRGAVGAL
Bovine FATRSIQVDGKTIKAQIWDT AGQERYRAITSAYYRGAVGAL
Slime mold FSTKTLKIDNKLIKLQLWDT AGQEKYNSITESYYKGAIGAL
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
2 – 215 Ras-related protein Rab-11B
66 – 70 GTP
70 – 70 Q -> L. Constitutively active mutant locked in the active GTP-bound form; alters apical recycling.
Recurrent de novo mutations disturbing the GTP/GDP binding pocket of RAB11B cause intellectual disability and a distinctive brain phenotype.
Lamers I.J.C.; Reijnders M.R.F.; Venselaar H.; Kraus A.; Jansen S.; de Vries B.B.A.; Houge G.; Gradek G.A.; Seo J.; Choi M.; Chae J.H.; van der Burgt I.; Pfundt R.; Letteboer S.J.F.; van Beersum S.E.C.; Dusseljee S.; Brunner H.G.; Doherty D.; Kleefstra T.; Roepman R.;
Am. J. Hum. Genet. 101:824-832(2017)
Cited for: INVOLVEMENT IN NDAGSCW; VARIANTS NDAGSCW MET-22 AND THR-68;
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.