Variant position: 325 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 501 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 EISKMYPGRASASPSLDVLI TLLSLGSNGYKKLLKERKEMF
Mouse DISKMYPGRASASPSLDVLI TLLSLGCSGYRKLLKERKEMF
Xenopus tropicalis EISKMYPGRASASPSLDVLI TLLSLGASGYNKLLKERKEMF
Zebrafish EISKIYPGRASASPSLDVLI TLLTLGANGYKKLLADRKELY
Caenorhabditis elegans SIAQSYPGRASSVPSRDLVL TLLYQGQSAFLEPFGKQKQMF
Slime mold QISRNYPGRANSSPILDVFI TLLSMGKQGWLNLLKERKELL
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
1 – 501 O-phosphoseryl-tRNA(Sec) selenium transferase
313 – 313 Substrate
48 – 501 Missing. In isoform 2.
313 – 313 R -> A. Inactive in vivo.
317 – 357
Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Anttonen A.K.; Hilander T.; Linnankivi T.; Isohanni P.; French R.L.; Liu Y.; Simonovic M.; Soell D.; Somer M.; Muth-Pawlak D.; Corthals G.L.; Laari A.; Ylikallio E.; Laehde M.; Valanne L.; Loennqvist T.; Pihko H.; Paetau A.; Lehesjoki A.E.; Suomalainen A.; Tyynismaa H.;
Cited for: VARIANT PCH2D SER-325;
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