Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P32004: Variant p.Asp598Asn

Neural cell adhesion molecule L1
Gene: L1CAM
Feedback?
Variant information Variant position: help 598 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Asparagine (N) at position 598 (D598N, p.Asp598Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MASA. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 598 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1257 The length of the canonical sequence.
Location on the sequence: help IHSLDYSDQGNYSCVASTEL D VVESRAQLLVVGSPGPVPRL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IHSLDYSDQGNYSCVASTELDVVESRAQLLVVGSPGPVPRL

Mouse                         IQSLDYSDQGNYSCVASTELDEVESRAQLLVVGSPGPVPHL

Rat                           IKSLDYSDQGDYSCVASTELDEVESRAQLLVVGSPGPVPHL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 20 – 1257 Neural cell adhesion molecule L1
Topological domain 20 – 1120 Extracellular
Domain 518 – 607 Ig-like C2-type 6
Glycosylation 588 – 588 N-linked (GlcNAc...) asparagine



Literature citations
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Vits L.; van Camp G.; Coucke P.; Fransen E.; de Boulle K.; Reyniers E.; Korn B.; Poustka A.; Wilson G.; Schrander-Stumpel C.; Winter R.M.; Schwartz C.; Willems P.J.;
Nat. Genet. 7:408-413(1994)
Cited for: VARIANTS MASA GLN-210 AND ASN-598; CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E.; Lemmon V.; van Camp G.; Vits L.; Coucke P.; Willems P.J.;
Eur. J. Hum. Genet. 3:273-284(1995)
Cited for: VARIANTS HYCX GLN-184; TYR-264; ARG-452 AND LEU-1194; VARIANTS MASA GLN-210; ASN-598 AND LEU-1194;
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.