Variant position: 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1573 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 AKACLISRLSCERAGTRFNV RGTNDDGHVANFVETEQVVYL
Mouse AKACLISRLSCERAGTRFNV RGTNDDGHVANFVETEQVIYL
Rat AKACLISRLSCERAGTRFNV RGTNDDGHVANFVETEQVIYL
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.
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
Krebs C.E.; Karkheiran S.; Powell J.C.; Cao M.; Makarov V.; Darvish H.; Di Paolo G.; Walker R.H.; Shahidi G.A.; Buxbaum J.D.; De Camilli P.; Yue Z.; Paisan-Ruiz C.;
Hum. Mutat. 34:1200-1207(2013)
Cited for: VARIANT PARK20 GLN-219; CHARACTERIZATION OF VARIANT PARK20 GLN-219;
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Quadri M.; Fang M.; Picillo M.; Olgiati S.; Breedveld G.J.; Graafland J.; Wu B.; Xu F.; Erro R.; Amboni M.; Pappata S.; Quarantelli M.; Annesi G.; Quattrone A.; Chien H.F.; Barbosa E.R.; Oostra B.A.; Barone P.; Wang J.; Bonifati V.;
Hum. Mutat. 34:1208-1215(2013)
Cited for: VARIANTS PARK20 GLN-219 AND ARG-1383;
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