Sequence information
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:
HLTFTREFDSDSLRHYSWAA
D TLDNVNLVSSPIHSGFLVSF
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 HLTFTREFDSDSLRHYSWAAD TLDNVNLVSSPIHSGFLVSF
Mouse HLTFTREFDSDSLRHYSWAAD TLDNVNLVSSPVHSGFLVSF
Rat HLPFTREFDSDSLRHYSWAAD TLDNVNLVSSPVHSGFLVSF
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
Chain
1 – 4377
Ankyrin-3
Modified residue
957 – 957
Phosphoserine
Modified residue
959 – 959
Phosphoserine
Literature citations
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.