Variant position: 380 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1549 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 LALILQRTFLQASYYVTIET GINLRGALLAMIYNKILRLST
Mouse LALILQRTFLQASYYVTIET GINLRGALLAMIYNKILRLST
Rat LALILQRTFLQASYYVTIET GINLRGALLAMIYNKILRLST
Rabbit LALILQRTFLQASYYVTIET GINLRGALLAMIYNKILRLST
Slime mold FSSFCSSLVDEYLVWFGMIT SSQVKSCLTCLIFEKSLKLSN
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 – 1549 ATP-binding cassette sub-family C member 9
372 – 423 Cytoplasmic
297 – 597 ABC transmembrane type-1 1
Dominant missense mutations in ABCC9 cause Cantu syndrome.
Harakalova M.; van Harssel J.J.; Terhal P.A.; van Lieshout S.; Duran K.; Renkens I.; Amor D.J.; Wilson L.C.; Kirk E.P.; Turner C.L.; Shears D.; Garcia-Minaur S.; Lees M.M.; Ross A.; Venselaar H.; Vriend G.; Takanari H.; Rook M.B.; van der Heyden M.A.; Asselbergs F.W.; Breur H.M.; Swinkels M.E.; Scurr I.J.; Smithson S.F.; Knoers N.V.; van der Smagt J.J.; Nijman I.J.; Kloosterman W.P.; van Haelst M.M.; van Haaften G.; Cuppen E.;
Nat. Genet. 44:793-796(2012)
Cited for: VARIANTS HTOCD TYR-60; GLU-207; CYS-380; LEU-432; PRO-1020; SER-1039; TYR-1054; HIS-1116; CYS-1116; GLN-1154 AND TRP-1154; CHARACTERIZATION OF VARIANTS HTOCD LEU-432; HIS-1116 AND GLN-1154;
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.