Variant position: 1354 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 GLHTLRSRISIIPQDPILFP GSLRMNLDLLQEHSDEAIWAA
Mouse GLHTLRSRITIIPQDPVLFP GSLRMNLDLLQEHTDEGIWAA
Rat GLHTLRSRITIIPQDPVLFP GSLRMNLDLLQENTDEGIWAA
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.
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
Pulkkinen L.; Nakano A.; Ringpfeil F.; Uitto J.;
Hum. Genet. 109:356-365(2001)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-364 AND ARG-1354; VARIANT GLY-265;
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