Variant position: 622 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:
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 FTQGIQFIEKT-CP---GATSRFT MNFLILYSFIPALVILGIVVF
Mouse ITQGVQFIEKT-CP---GATSRFT ANFLILYGFIPALVILG
Rat MTQGIQFIEKT-CP---GATSRFT TNFLILYSFIPTLVILG
Slime mold IENGVQIAIKYYCPITNGDDFMLT YGFHKFMRYIDIAAIFG
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 – 651 ATP-binding cassette sub-family G member 5
550 – 623 Extracellular
388 – 645 ABC transmembrane type-2
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;
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