Variant position: 433 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 752 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 VNGLLFQLSLPLNFLGTV--YR ETRQALIDMNTLFTLLKVDTQ
Mouse VNGLLFQLSLPLNFLGTV--YR ETRQALIDMNTLFTLLKVD
Rat VNGLLFQLSLPLNFLGTV--YR ETRQALIDMNTLFTLLKVD
Slime mold LQFILYSLMITASMNGLIGSIN EIQKLISSSKRIFSLID--
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
23 – 752 ATP-binding cassette sub-family B member 7, mitochondrial
140 – 436 ABC transmembrane type-1
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation.
Bekri S.; Kispal G.; Lange H.; Fitzsimons E.; Tolmie J.; Lill R.; Bishop D.F.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASAT LYS-433;
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