Variant position: 453 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 842 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 EWRTKFRRAMNTQENATRAR AVDSLLNFETVKYYNAESYEV
Mouse EWRAKFRRDMNTQENATRAR AVDSLLNFETVKYYGAEGYEV
Rat EWRAKFRRDMNTQENATRAR AVDSLLNFETVKYYNAEGYEL
Xenopus tropicalis EWRTKYRREMNTRDNEAKSR AVDSLLNFETVKYYNAEGYEV
Slime mold ERRTKHRRLANKKENEASDI KVDSLMNFETIKYFTAESYER
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 – 842 ATP-binding cassette sub-family B member 6, mitochondrial
265 – 556 ABC transmembrane type-1
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.
Liu H.; Li Y.; Hung K.K.; Wang N.; Wang C.; Chen X.; Sheng D.; Fu X.; See K.; Foo J.N.; Low H.; Liany H.; Irwan I.D.; Liu J.; Yang B.; Chen M.; Yu Y.; Yu G.; Niu G.; You J.; Zhou Y.; Ma S.; Wang T.; Yan X.; Goh B.K.; Common J.E.; Lane B.E.; Sun Y.; Zhou G.; Lu X.; Wang Z.; Tian H.; Cao Y.; Chen S.; Liu Q.; Liu J.; Zhang F.;
PLoS ONE 9:E87250-E87250(2014)
Cited for: VARIANT DUH3 VAL-453;
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