Sequence information
Variant position: 523 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 651 The length of the canonical sequence.
Location on the sequence:
SAALLAPHLIGEFLTLVLLG
I VQNPNIVNSVVALLSIAGVL
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 SAALLAPHLIGEFLTLVLLGI VQNPNIVNSVVAL-LSIAGVL
Mouse SAALLAPHLIGEFLTLVLLGI VQNPNIVNSIVAL-LSISGL
Rat SAALLAPHLIGEFLTLVLLGM VQNPNIVNSIVAL-LSISGL
Slime mold LFIFIITYIMYDAFALCLAVC LPNEVMASTICGIGLSLATL
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
Chain
1 – 651
ATP-binding cassette sub-family G member 5
Topological domain
522 – 528
Cytoplasmic
Domain
388 – 645
ABC transmembrane type-2
Mutagenesis
540 – 540
A -> F. Strongly decreases cholesterol secretion into bile.
Literature citations
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hubacek J.A.; Berge K.E.; Cohen J.C.; Hobbs H.H.;
Hum. Mutat. 18:359-360(2001)
Cited for: VARIANT STSL2 LYS-437; VARIANTS VAL-523; TYR-600; GLU-604 AND VAL-622;
Disclaimer:
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.