Variant position: 764 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 GLLTFVDHLPVTQVVIGDTN RSTSEAQFFLRPLRCYGDRNS
Mouse GLLTFVDHLPVTQVVVGDTN RSNSEAQFFLRPLRCYGDRNS
Rat GLLTFVDHLPVTQVVIGDTN RSSSEAQFFLRPLRCYGDRNS
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
763 – 763 N-linked (GlcNAc...) asparagine
Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Vallat J.M.; Nizon M.; Magee A.; Isidor B.; Magy L.; Pereon Y.; Richard L.; Ouvrier R.; Cogne B.; Devaux J.; Zuchner S.; Mathis S.;
J. Neuropathol. Exp. Neurol. 75:1155-1159(2016)
Cited for: INVOLVEMENT IN CHN3; VARIANTS CHN3 623-TRP--GLU-1384 DEL; 671-GLN--GLU-1384 DEL AND CYS-764; FUNCTION;
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
Hengel H.; Magee A.; Mahanjah M.; Vallat J.M.; Ouvrier R.; Abu-Rashid M.; Mahamid J.; Schuele R.; Schulze M.; Kraegeloh-Mann I.; Bauer P.; Zuechner S.; Sharkia R.; Schoels L.;
Neurol. Genet. 3:E144-E144(2017)
Cited for: VARIANT LCCS7 672-TRP--GLU-1384 DEL; VARIANTS CHN3 671-GLN--GLU-1384 DEL AND CYS-764; FUNCTION;
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.