Variant position: 515 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1020 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 E---L---VAESMGEECR-------GIPGSVFK RTSPFLTHQVFNSYHSETNIV
Mouse E---L---VAEGMGEERR-------GLLGSSFK RTSPFLTH
Chicken E---L---VAEGMGEETK-------GILSTPFK RTSKFLTH
Slime mold P---LGLSSPEQLEKETST-----ISVISEEFA RQTPFLTH
Baker's yeast Q---F---LSEDYSN-----------SFPREFQ RTDEILRN
Fission yeast DQYYMEIATSEPNGNSASTVDNLSICSLPENFR RTTLYLQH
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
36 – 1020 Glycine dehydrogenase (decarboxylating), mitochondrial
514 – 514 N6-acetyllysine
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
Toone J.R.; Applegarth D.A.; Coulter-Mackie M.B.; James E.R.;
Mol. Genet. Metab. 72:322-325(2001)
Cited for: VARIANT NKH SER-515;
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