Variant position: 129 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 NNTIVWTNSSLNQNMTNGTR CGLLNIESEMIKFASYYAGIA
Mouse NNTIVWINSSFNQNMTNGTS CGLVDINSEVIKFSGIYAGVG
Rat NNTIVWINSSFHQNMTNGTV CGLVDIESEMIKFSGIYAGVG
Rabbit NNTIVWINSSLNQNVTNGTR CGLLDIESEMIRFAGYYAGIG
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
84 – 147 Extracellular
62 – 385 ABC transmembrane type-1 1
109 – 109 N-linked (GlcNAc...) asparagine
116 – 116 N-linked (GlcNAc...) asparagine
122 – 122 N-linked (GlcNAc...) asparagine
125 – 125 N-linked (GlcNAc...) asparagine
1 – 441 Missing. Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability.
126 – 129
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Imagawa K.; Hayashi H.; Sabu Y.; Tanikawa K.; Fujishiro J.; Kajikawa D.; Wada H.; Kudo T.; Kage M.; Kusuhara H.; Sumazaki R.;
J. Hum. Genet. 63:569-577(2018)
Cited for: VARIANT PFIC2 TYR-129; CHARACTERIZATION OF VARIANT PFIC2 TYR-129; SUBCELLULAR LOCATION; FUNCTION; CATALYTIC ACTIVITY;
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.