Variant position: 555 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 TYIIQLYMPLNWFGTYYRMI QTNFIDMENMFDLLKEETEVK
Mouse TYITQLYMPLNWFGTYYRMI QTNFIDMENMFDLLKEETEVK
Rat TYITQLYMPLNWFGTYYRMI QTNFIDMENMFDLLKEETEVK
Xenopus tropicalis TYIIQLYTPLNWFGTYYRMI QSSFIDMENMFELFNEDQEVK
Slime mold TFIAQMFSPLSWLGSSYRMI LTAFTDMENLFELLDTQPEVS
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
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
Cui Y.X.; Xia X.Y.; Zhou Y.; Gao L.; Shang X.J.; Ni T.; Wang W.P.; Fan X.B.; Yin H.L.; Jiang S.J.; Yao B.; Hu Y.A.; Wang G.; Li X.J.;
PLoS ONE 8:E79808-E79808(2013)
Cited for: VARIANT DUH3 LYS-555;
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