Variant position: 1018 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 LLGEDAEVAADFDMEGDVDD YSAEVEELLPQHLQPSSSSGL
Mouse LLGEDAEVAADFDMEGDVDD YSAEVEELLPQHLQPSSSSGL
Rat LLGEDAEVSADFDMEGDVDD YSAEVEELLPQHLQPSSSSGL
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
525 – 1573 Missing. In isoform 4.
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.
Hardies K.; Cai Y.; Jardel C.; Jansen A.C.; Cao M.; May P.; Djemie T.; Hachon Le Camus C.; Keymolen K.; Deconinck T.; Bhambhani V.; Long C.; Sajan S.A.; Helbig K.L.; Suls A.; Balling R.; Helbig I.; De Jonghe P.; Depienne C.; De Camilli P.; Weckhuysen S.;
Cited for: FUNCTION; INVOLVEMENT IN DEE53; VARIANT DEE53 CYS-849; CHARACTERIZATION OF VARIANT DEE53 CYS-849; VARIANTS ILE-981 AND SER-1018; CHARACTERIZATION OF VARIANTS ILE-981 AND SER-1018;
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.