Sequence information
Variant position: 648 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:
GKSTILRLLFRFYDISSGCI
R IDGQDISQVTQASLRSHIGV
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 GKSTILRLLFRFYDISSGCIR IDGQDISQVTQASLRSHIGV
Mouse GKSTILRLLFRFYDISSGCIR IDGQDISQVTQISLRSHIGV
Rat GKSTILRLLFRFYDISSGCIR IDGQDISQVTQISLRSHIGV
Xenopus tropicalis GKSTIIRLLFRFYDVKGGTIK VDGQDISTVRQESLRSHIGV
Slime mold GKSTIFRLLCRFYDVDQGEIL INGENIKDVTQTSLRSIIGV
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 – 842
ATP-binding cassette sub-family B member 6
Topological domain
551 – 842
Cytoplasmic
Domain
590 – 824
ABC transporter
Mutagenesis
629 – 629
K -> A. Abolishes ATP hydrolysis. Abolishes coproporphyrin III transport.
Mutagenesis
629 – 629
K -> M. Does not affect subcellular location in early melanosome and lysosome. Does not rescue the normal amyloid fibril formation and normal maturation of pigmented melanosomes. Does not influence trafficking of melanosomal proteins. Fails to rescue vacuolar sequestration of cadmium in Schizosaccharomyces pombe and Caenorhabditis elegans strains defective for HMT-1. Fails to rescue the cadmium tolerance in Schizosaccharomyces pombe and Caenorhabditis elegans strains defective for HMT-1. Does not rescue vacuolar cadmium levels in hmt-1 mutant S. pombe.
Beta strand
643 – 649
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.