Sequence information
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:
SCLRKEYAGKKKNCFSKRKK
K IATRNVSFCVKKGEVIGLLG
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 SCLRKEYAGKKKNCFSKRKKK IATRNVSFCVKKGEVIGLLG
Mouse SCLRKEYIGRTKRCFSKMKKK IATRNISFCVKKGEVLGLLG
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
Chain
1 – 1624
ATP-binding cassette sub-family A member 9
Domain
1288 – 1521
ABC transporter 2
Alternative sequence
267 – 1624
Missing. In isoform 2.
Alternative sequence
268 – 1624
Missing. In isoform 5.
Literature citations
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;
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.