Variant position: 258 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 350 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 SGMLVKCGHRELHGDFVAPE QLWPYGEDVPFHDDLMPSYDE
Mouse SGVLIKCGHRELHGDFVAPE QLWPYGEDTPFQDDLMPSYNE
Rat SRVLVKCGHRELHGDFVAPE QLWPYGEDTPFQDDLMPPYDE
Chicken AGRLVKCGHRELWGEFVAPE QRWPYGEDVPFDDDLMPPYDE
Xenopus laevis KGILVKCGQREITGHFVAPE QLWPYGPNIEFSDDLMPSYDE
Zebrafish -GLGVKCGHHELTGDFVAPE QLWPYGEDFSFSDEAMPGYDE
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 – 350 Protein O-mannose kinase
44 – 350 Lumenal
81 – 350 Protein kinase
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
Jae L.T.; Raaben M.; Riemersma M.; van Beusekom E.; Blomen V.A.; Velds A.; Kerkhoven R.M.; Carette J.E.; Topaloglu H.; Meinecke P.; Wessels M.W.; Lefeber D.J.; Whelan S.P.; van Bokhoven H.; Brummelkamp T.R.;
Cited for: VARIANTS MDDGA12 ARG-137 AND ARG-258; FUNCTION; INVOLVEMENT IN MDDGA12;
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