Variant position: 284 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 SKFTDYELKAYAKAGVVADE VISSMRTVAAFGGEKREVERY
Mouse AKFTELELKAYAKAGSIADE VLSSIRTVAAFGGENKEVERY
Rat AKFTELELKAYAKAGSIADE VLSSIRTVAAFGGENKEVERY
Rabbit SKFTDYELKAYAKAGSVADE VISSMRTVAAFGGEKKEVERY
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 – 1321 Bile salt export pump
262 – 319 Cytoplasmic
62 – 385 ABC transmembrane type-1 1
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T.; Haberl M.; Jung D.; Drescher A.; Schlagenhaufer R.; Keil A.; Mornhinweg E.; Stieger B.; Kullak-Ublick G.A.; Kerb R.;
Drug Metab. Dispos. 34:1582-1599(2006)
Cited for: VARIANTS VAL-206; ALA-284; LYS-299; ALA-444; GLY-616; ALA-619; VAL-677; HIS-698; VAL-865 AND GLN-958;
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
Lang C.; Meier Y.; Stieger B.; Beuers U.; Lang T.; Kerb R.; Kullak-Ublick G.A.; Meier P.J.; Pauli-Magnus C.;
Pharmacogenet. Genomics 17:47-60(2007)
Cited for: VARIANTS ALA-284; ALA-444; TYR-676; VAL-677; HIS-698 AND ARG-855; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS ALA-444; TYR-676; VAL-677 AND ARG-855;
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.