Variant position: 1383 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 QSNV--LSSVSCMPTMPPIPAR SQSQENMRSSPNPFITGLTRT
Mouse QSQVNPLSSVSCMPTRPPGPEE SKSQESMGSSANPF-PSLP
Rat QSKVNSLSSVSCMLTMPPVPEQ SKSQESVGSSANPF-PSLP
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 – 1573 Synaptojanin-1
1370 – 1463 Disordered
1370 – 1410 Polar residues
525 – 1573 Missing. In isoform 4.
1312 – 1573 Missing. In isoform 2 and isoform 3.
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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