Variant position: 714 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1384 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 WIGRNEEQHFYWGGSQPGIQ RCACGLDRSCVDPALYCNCDA
Mouse WIGRNEEQHFYWGGSQPGIQ RCACGLDQSCVDPALHCNCDA
Rat WIGRNEEQHFYWGGSQPGIQ RCACGLDQSCIDPALHCNCDA
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
20 – 1384 Contactin-associated protein 1
20 – 1283 Extracellular
576 – 795 Fibrinogen C-terminal
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
Low K.J.; Stals K.; Caswell R.; Wakeling M.; Clayton-Smith J.; Donaldson A.; Foulds N.; Norman A.; Splitt M.; Urankar K.; Vijayakumar K.; Majumdar A.; Study D.; Ellard S.; Smithson S.F.;
Eur. J. Hum. Genet. 26:796-807(2018)
Cited for: INVOLVEMENT IN CHN3; VARIANTS CHN3 GLN-50; PRO-212; 559-TRP--GLU-1384 DEL; 621-ARG--GLU-1384 DEL; PRO-714; 782-ARG--GLU-1384 DEL AND 896-TRP--GLU-1384 DEL;
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.