Variant position: 521 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 QNLVIGLGLLAGSLLCAYFV TEQKLQVGDYVLFGTYIIQLY
Mouse QNLVIGLGLLAGSLLCAYFV SEQKLQVGDFVLFGTYITQLY
Rat QNMVIGFGLLAGSLLCAYFV SERRLQVGDFVLFGTYITQLY
Xenopus tropicalis QNLIIGLGLLAGSLLCAYFV TENKFKVGDYVLFGTYIIQLY
Slime mold QSSIIVIGTTLGLGLATWRA SQNGFTLGDVIAINTFIAQMF
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
521 – 529 Lumenal
265 – 556 ABC transmembrane type-1
531 – 531 V -> A. Loss of substrate-stimulate ATPase activity. Impairs protein expression.
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y.; Cheong P.L.; Lynch J.; Brighton C.; Frase S.; Kargas V.; Rampersaud E.; Wang Y.; Sankaran V.G.; Yu B.; Ney P.A.; Weiss M.J.; Vogel P.; Bond P.J.; Ford R.C.; Trent R.J.; Schuetz J.D.;
Nat. Commun. 7:12353-12353(2016)
Cited for: VARIANTS GLN-192; TRP-276; THR-492; SER-521; SER-588 AND THR-681; CHARACTERIZATION OF VARIANTS TRP-276; THR-492 AND SER-521; CATALYTIC ACTIVITY; FUNCTION; SUBCELLULAR LOCATION;
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.