Variant position: 236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 374 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 KKPLYVAFSFMYILVGLTVI GAFLNLVVLRFLTMNSEDERR
Mouse RKPFYVAFSFMYILVGLTVI GAFLNLVVLRFLTMNTDEELL
Rat RKPFYVAFSFMYILVGLTVI GAFLNLVVLRFLTMNTDEDLL
Xenopus laevis KKPLYVAFSFMYILVGLTVI GAFLNLVVLRFLTMNSEDERR
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 – 374 Potassium channel subfamily K member 9
219 – 239 Helical
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
Barel O.; Shalev S.A.; Ofir R.; Cohen A.; Zlotogora J.; Shorer Z.; Mazor G.; Finer G.; Khateeb S.; Zilberberg N.; Birk O.S.;
Am. J. Hum. Genet. 83:193-199(2008)
Cited for: VARIANT BIBARS ARG-236; CHARACTERIZATION OF VARIANT BIBARS ARG-236;
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Graham J.M. Jr.; Zadeh N.; Kelley M.; Tan E.S.; Liew W.; Tan V.; Deardorff M.A.; Wilson G.N.; Sagi-Dain L.; Shalev S.A.;
Am. J. Med. Genet. A 170:2632-2637(2016)
Cited for: VARIANT BIBARS ARG-236;
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