Variant position: 295 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 519 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 NIGMCFFGKKKYVAAISCLK RANYLAPFDWKILYNLGLVHL
Mouse NIGMCFFGKKKYVAAISCLK RANYLAPFDWKILYNLGLVHL
Bovine NIGMCFFGKKKYVAAISCLK RANYLAPLDWKILYNLGLVHL
Xenopus tropicalis NIGMCFYGKKKYVAAISCLK RALYLSPFDWRVLYNLGLVHL
Caenorhabditis elegans NIGIGLLARNKPAASHSALK KAAFINPLNYKISYNLGVLHD
Drosophila NIGLCFFKKQKFIVAISSLR KSVWLSPLNYNALYNLSLIYI
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 – 519 Bardet-Biedl syndrome 4 protein
270 – 303 TPR 7
101 – 337 Interaction with PCM1
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K.; Braun T.; Carmi R.; Haider N.B.; Searby C.C.; Shastri M.; Beck G.; Wright A.F.; Iannaccone A.; Elbedour K.; Riise R.; Baldi A.; Raas-Rothschild A.; Gorman S.W.; Duhl D.M.; Jacobson S.G.; Casavant T.; Stone E.M.; Sheffield V.C.;
Nat. Genet. 28:188-191(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT BBS4 PRO-295;
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