Variant position: 551 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3142 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 SHSSSQVSAVPSDPAMDLND GTQASSPISDSSQTTTEGPDS
Mouse SHSSSQFSAVPSDPAMDLND GTQASSPISDSSQTTTEGPDS
Rat SHSSSQFSAVPSDPAMDLND GTQASSPISDSSQTTTEGPDS
Slime mold AQSVKFFPKLFNDEFFKHQP STIDSNTVTSAEDHICRDYLL
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 – 3142 Huntingtin
551 – 584 Huntingtin, myristoylated N-terminal fragment
550 – 551 Cleavage; by caspase-3
551 – 551 N-myristoyl glycine
550 – 550 D -> E. Loss of proteolytic cleavage. Loss of myristoylation.
551 – 551 G -> A. Loss of myristoylation.
551 – 551 G -> S. Loss of myristoylation.
A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.
Martin D.D.O.; Kay C.; Collins J.A.; Nguyen Y.T.; Slama R.A.; Hayden M.R.;
Sci. Rep. 8:8096-8096(2018)
Cited for: PROTEOLYTIC CLEAVAGE AT ASP-550; MYRISTOYLATION AT GLY-551; MUTAGENESIS OF ASP-550 AND GLY-551; CHARACTERIZATION OF VARIANT GLU-551;
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.