Variant position: 982 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1321 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 ALETELEKPFKTAIQKANIY GFCFAFAQCIMFIANSASYRY
Mouse AFEVELEKSYKTAIRKANVY GLCYAFSQGISFLANSAAYRY
Rat AFEVELQTSYKTAVRKANIY GLCFAFSQGIAFLANSAAYRY
Rabbit TFEAELEKPYKMAIKKANVY GLCFGFSQCITFIANSASYRY
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.
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks S.S.; Bull L.N.; Knisely A.S.; Kocoshis S.A.; Dahl N.; Arnell H.; Sokal E.M.; Dahan K.; Childs S.; Ling V.; Tanner M.S.; Kagalwalla A.F.; Nemeth A.; Pawlowska J.; Baker A.; Mieli-Vergani G.; Freimer N.B.; Gardiner R.M.; Thompson R.J.;
Nat. Genet. 20:233-238(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PFIC2 GLY-297; GLU-461; GLY-482; ARG-982; CYS-1153 AND GLN-1268;
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.
Ho R.H.; Leake B.F.; Kilkenny D.M.; Meyer Zu Schwabedissen H.E.; Glaeser H.; Kroetz D.L.; Kim R.B.;
Pharmacogenet. Genomics 20:45-57(2010)
Cited for: VARIANTS LEU-56; VAL-206; ALA-444; HIS-558; SER-591; GLN-592; VAL-677 AND LYS-1186; CHARACTERIZATION OF VARIANTS LEU-56; VAL-206; ALA-444; HIS-558; SER-591; GLN-592; VAL-677 AND LYS-1186; VARIANT PFIC2 GLY-297; CHARACTERIZATION OF VARIANTS PFIC2 GLY-297; ARG-982 AND CYS-1153; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
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.