Variant position: 358 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 574 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 ELGKTIVYLDGSSQSCRFRE CNMGNLICDAMINNNLRHTDE
Mouse ELGRTIVYLDGSTQTCRFRE CNMGNLICDAMINNNLRHPDE
Rat ELGRTIVYLNGSAQECRFRE CNMGNLICDAMINNNLRHPDE
Bovine ELGKTIVYLDGTAQSCRFRE CNMGNLICDAMINNNLRHPDE
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.
NT5E mutations and arterial calcifications.
St Hilaire C.; Ziegler S.G.; Markello T.C.; Brusco A.; Groden C.; Gill F.; Carlson-Donohoe H.; Lederman R.J.; Chen M.Y.; Yang D.; Siegenthaler M.P.; Arduino C.; Mancini C.; Freudenthal B.; Stanescu H.C.; Zdebik A.A.; Chaganti R.K.; Nussbaum R.L.; Kleta R.; Gahl W.A.; Boehm M.;
N. Engl. J. Med. 364:432-442(2011)
Cited for: VARIANT CALJA TYR-358;
NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein.
Fausther M.; Lavoie E.G.; Goree J.R.; Baldini G.; Dranoff J.A.;
PLoS ONE 9:E98568-E98568(2014)
Cited for: CHARACTERIZATION OF VARIANT CALJA TYR-358;
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