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UniProtKB/Swiss-Prot P32004: Variant p.His30Asn

Neural cell adhesion molecule L1
Gene: L1CAM
Variant information

Variant position:  30
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Histidine (H) to Asparagine (N) at position 30 (H30N, p.His30Asn).
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:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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



Sequence information

Variant position:  30
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:   PLLLCSPCLLIQIPEEYEGH  H VMEPPVITEQSPRRLVVFPT
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                         PLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPT

Mouse                         PLLLCSPCLLIQIPDEYKGHHVLEPPVITEQSPRRLVVFPT

Rat                           PLLLCSPCLLIQIPDEYKGHHVLEPPVITEQSPRRLVVFPT

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.

TypePositionsDescription
Chain 20 – 1257 Neural cell adhesion molecule L1
Topological domain 20 – 1120 Extracellular
Alternative sequence 26 – 31 YEGHHV -> L. In isoform 3.


Literature citations

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U.; Schroeder J.; Ressler B.; Veske A.; Gal A.;
Am. J. Med. Genet. 92:40-46(2000)
Cited for: VARIANTS HSAS TRP-184; CYS-335; ILE-408; ASP-421; TYR-497; THR-691 AND PRO-751; VARIANTS ASN-30; TRP-739 AND GLU-1239; VARIANT HSAS/MASA ARG-370;

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.