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UniProtKB/Swiss-Prot P32004: Variant p.Val752Met

Neural cell adhesion molecule L1
Gene: L1CAM
Variant information

Variant position:  752
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Valine (V) to Methionine (M) at position 752 (V752M, p.Val752Met).
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 hydrophobic.
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

Variant description:  In HSAS and MASA; also found in a patient with the diagnosis of L1 syndrome; also in a patient with hydrocephalus and Hirschsprung disease.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  752
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:   VITWKPLRWMDWNAPQVQYR  V QWRPQGTRGPWQEQIVSDPF
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                         VITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPF

Mouse                         VITWKPLRWMDWNAPQIQYRVQWRPQGKQETWRKQTVSDPF

Rat                           VITWKPLRWMDWNAPQIQYRVQWRPLGKQETWKEQTVSDPF

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
Domain 717 – 810 Fibronectin type-III 2


Literature citations

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.
Vos Y.J.; de Walle H.E.; Bos K.K.; Stegeman J.A.; Ten Berge A.M.; Bruining M.; van Maarle M.C.; Elting M.W.; den Hollander N.S.; Hamel B.; Fortuna A.M.; Sunde L.E.; Stolte-Dijkstra I.; Schrander-Stumpel C.T.; Hofstra R.M.;
J. Med. Genet. 47:169-175(2010)
Cited for: INVOLVEMENT IN L1 SYNDROME; VARIANTS 26-TYR--GLU-1257 DEL; ASN-37; MET-38; 66-GLN--GLU-1257 DEL; 109-GLN--GLU-1257 DEL; 133-GLU--GLU-1257 DEL; 138-TRP--GLU-1257 DEL; ILE-172; GLY-184; 187-MET--VAL-198 DEL; ASP-254; ARG-276; PRO-313; 366-TRP--GLU-1257 DEL; LYS-369; 423-GLN--GLU-1257 DEL; ARG-480; ASN-516; TYR-516; HIS-525; MET-627; PRO-645; 662-TRP--GLU-1257 DEL; SER-714; ARG-754; 760-ARG--GLU-1257 DEL; 789-GLN--GLU-1257 DEL; 811-TYR--GLU-1257 DEL; 891-TYR--GLU-1257 DEL; 901-ARG--GLU-1257 DEL; 1064-SER--GLU-1257 DEL; ASN-1071 DEL AND GLN-1080; VARIANTS HSAS/MASA SER-179; ARG-335 AND MET-752; VARIANT MASA TYR-202; VARIANTS HSAS GLN-184 AND PRO-415;

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
Gu S.-M.; Orth U.; Zankl M.; Schroeder J.; Gal A.;
Am. J. Med. Genet. 71:336-340(1997)
Cited for: VARIANT MASA PRO-482; VARIANTS HSAS SER-526 DEL; PRO-542 AND THR-741; VARIANT HSAS/MASA MET-752; VARIANT ILE-768;

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
Parisi M.A.; Kapur R.P.; Neilson I.; Hofstra R.M.W.; Holloway L.W.; Michaelis R.C.; Leppig K.A.;
Am. J. Med. Genet. 108:51-56(2002)
Cited for: VARIANT HSAS/MASA MET-752; POSSIBLE INVOLVEMENT IN HIRSCHSPRUNG DISEASE;

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.