Sequence information
Variant position: 635 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1257 The length of the canonical sequence.
Location on the sequence:
VPRLVLSDLHLLTQSQVRVS
W SPAEDHNAPIEKYDIEFEDK
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 VPRLVLSDLHLLTQSQVRVSW SPAEDHNAPIEKYDIEFEDK
Mouse VPHLELSDRHLLKQSQVHLSW SPAEDHNSPIEKYDIEFEDK
Rat VPHLELSDRHLLKQSQVHLSW SPAEDHNSPIEKYDIEFEDK
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
Chain
20 – 1257
Neural cell adhesion molecule L1
Topological domain
20 – 1120
Extracellular
Domain
615 – 712
Fibronectin type-III 1
Literature citations
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Marx M.; Diestel S.; Bozon M.; Keglowich L.; Drouot N.; Bouche E.; Frebourg T.; Minz M.; Saugier-Veber P.; Castellani V.; Schaefer M.K.;
Neurogenetics 13:49-59(2012)
Cited for: INVOLVEMENT IN L1 SYNDROME; VARIANTS CYS-635 AND ILE-768; GLYCOSYLATION;
Disclaimer:
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.