Variant position: 337 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 455 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 PVIFVVNNQEELERLNTQNA IAFRRDQRSLYFKDSLGWLPI
Mouse PAIFVVNNQEELERLNTQNA IAFRRDQRSLYFKDSLGWLPI
Rat PAIFVVNNQEELEKLNTQNA IAFRRDQRSLYFKDSLGWLPI
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
23 – 455 Acetylcholinesterase collagenic tail peptide
282 – 455 Missing. In isoform VII.
292 – 455 Missing. In isoform VI.
330 – 455 Missing. In isoform VIII.
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Matlik H.N.; Milhem R.M.; Saadeldin I.Y.; Al-Jaibeji H.S.; Al-Gazali L.; Ali B.R.;
Pediatr. Neurol. 51:165-169(2014)
Cited for: VARIANT CMS5 THR-337;
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