Sequence information
Variant position: 742 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1503 The length of the canonical sequence.
Location on the sequence:
LERVLEACALQPDVDSFPEG
I HTSIGEQGMNLSGGQKQRLS
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 LERVLEACALQPDVDSFPEGI HTSIGEQGMNLSGGQKQRLS
Mouse LQKVLDACALGSDVASFPAGV HTPIGEQGMNLSGGQKQRLS
Rat LQEVLEACALGSDVASFPAGV HTPVGEQGMNLSGGQKQRLS
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 – 1503
ATP-binding cassette sub-family C member 6
Topological domain
597 – 939
Cytoplasmic
Domain
629 – 853
ABC transporter 1
Alternative sequence
100 – 1503
Missing. In isoform 2.
Helix
741 – 743
Literature citations
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S.; Lumsden A.; Guenther U.P.; Foernzler D.; Christen-Zach S.; Daugherty C.; Ramesar R.K.; Lebwohl M.; Hohl D.; Neldner K.H.; Lindpaintner K.; Richards R.I.; Struk B.;
Hum. Mutat. 26:235-248(2005)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; GLU-129; ARG-317; ARG-355; ARG-364; ASP-370; GLY-391; GLY-398; HIS-495; GLN-518; SER-551; VAL-594; PRO-677; TRP-760; GLN-765; GLN-807; TRP-807; GLU-1056; PHE-1036 DEL; PHE-1048 DEL; CYS-1114; LEU-1121; GLN-1138; TRP-1138; GLN-1164; CYS-1221; TRP-1235; ARG-1302; PRO-1303; GLN-1314; CYS-1339; LEU-1339 AND TRP-1357; VARIANTS THR-78; LYS-125; VAL-158; GLY-265; GLU-281; VAL-319; ILE-514; ALA-614; GLN-632; LYS-724; VAL-742; ILE-946; TRP-1064 AND GLN-1268;
Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
Ramsay M.; Greenberg T.; Lombard Z.; Labrum R.; Lubbe S.; Aron S.; Marais A.S.; Terry S.; Bercovitch L.; Viljoen D.;
J. Dermatol. Sci. 54:198-204(2009)
Cited for: VARIANTS PXE GLN-518; PRO-726; GLN-1138; ARG-1302; PRO-1335 AND CYS-1339; VARIANTS THR-78; GLY-265; MET-417; ALA-614; GLN-632; LEU-724; VAL-742; VAL-848 AND ILE-946;
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.