Variant position: 75 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 406 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 TKYPCLKSSGELTTCYRKKC CKGYKFVLGQCIPEDYDVCAE
Mouse TKYPCLKSSGELTTCFRKKC CKGYKFVLGQCIPEDYDICAQ
Zebrafish TKYPCVKSTGEVTTCYRKKC CEGFKFVLGQCIPEDYDVCAG
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
35 – 406 Collagen and calcium-binding EGF domain-containing protein 1
1 – 271 Missing. In isoform 2.
1 – 191 Missing. In isoform 3.
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M.; Hogan B.M.; Gjini E.; Salehi F.; Al-Gazali L.; Hennekam E.A.; Holmberg E.E.; Mannens M.M.; Mulder M.F.; Offerhaus G.J.; Prescott T.E.; Schroor E.J.; Verheij J.B.; Witte M.; Zwijnenburg P.J.; Vikkula M.; Schulte-Merker S.; Hennekam R.C.;
Nat. Genet. 41:1272-1274(2009)
Cited for: FUNCTION; VARIANTS HKLLS1 SER-75; SER-102; CYS-158; ARG-174 AND ARG-327;
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
Connell F.; Kalidas K.; Ostergaard P.; Brice G.; Homfray T.; Roberts L.; Bunyan D.J.; Mitton S.; Mansour S.; Mortimer P.; Jeffery S.;
Hum. Genet. 127:231-241(2010)
Cited for: VARIANT HKLLS1 SER-75;
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