Variant position: 968 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4377 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 HLTFTREFDSDSLRHYSWAA DTLDNVNLVSSPIHSGFLVSF
Mouse HLTFTREFDSDSLRHYSWAA DTLDNVNLVSSPVHSGFLVSF
Rat HLPFTREFDSDSLRHYSWAA DTLDNVNLVSSPVHSGFLVSF
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 – 4377 Ankyrin-3
957 – 957 Phosphoserine
959 – 959 Phosphoserine
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E.; Eklund E.A.; Hammarsjoe A.; Bengtson P.; Geiberger S.; Lagerstedt-Robinson K.; Malmgren H.; Nilsson D.; Grigelionis G.; Conner P.; Lindgren P.; Lindstrand A.; Wedell A.; Albaage M.; Zielinska K.; Nordgren A.; Papadogiannakis N.; Nishimura G.; Grigelioniene G.;
Eur. J. Hum. Genet. 24:198-207(2016)
Cited for: VARIANT HIS-968;
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