Variant position: 1306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1624 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 SCLRKEYAGKKKNCFSKRKK KIATRNVSFCVKKGEVIGLLG
Mouse SCLRKEYIGRTKRCFSKMKK KIATRNISFCVKKGEVLGLLG
Slime mold EGLTKHYVGRPKPSVD---- -----NLYLSVRKGEVLGFLG
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 – 1624 ATP-binding cassette sub-family A member 9
1288 – 1521 ABC transporter 2
267 – 1624 Missing. In isoform 2.
268 – 1624 Missing. In isoform 5.
Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily.
Arnould I.; Schriml L.M.; Prades C.; Lachtermacher-Triunfol M.; Schneider T.; Maintoux C.; Lemoine C.; Debono D.; Devaud C.; Naudin L.; Bauche S.; Annat M.; Annilo T.; Allikmets R.; Gold B.; Denefle P.; Rosier M.; Dean M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS HIS-353 AND THR-1306; TISSUE SPECIFICITY;
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