Variant position: 1335 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:
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 LQEAAEGGIWIDGVPIAHVG LHTLRSRISIIPQDPILFPGS
Mouse LQEAAEGNIWIDGVPITHVG LHTLRSRITIIPQDPVLFPGS
Rat LQEATEGGIWIDGVPITDMG LHTLRSRITIIPQDPVLFPGS
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.
Novel ABCC6 mutations in pseudoxanthoma elasticum.
Chassaing N.; Martin L.; Mazereeuw J.; Barrie L.; Nizard S.; Bonafe J.L.; Calvas P.; Hovnanian A.;
J. Invest. Dermatol. 122:608-613(2004)
Cited for: VARIANTS PXE VAL-74 DEL; 363-GLN--ARG-373 DEL; GLY-391; GLN-518; ASP-766; MET-1130; GLN-1138 HIS-1238; PRO-1335 AND LYS-1400;
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;
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.