Sequence information
Variant position: 452 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:
DNQTYMAVQGSTAYLLCKAF
G APVPSVQWLDEDGTTVLQDE
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 DNQTYMAVQGSTAYLLCKAFG APVPSVQWLDEDGTTVLQDE
Mouse DNQTYMAVEGSTAYLLCKAFG APVPSVQWLDEEGTTVLQDE
Rat DNQTYMAVEGSTAYLLCKAFG APVPSVQWLDEEGTTVLQDE
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
425 – 507
Ig-like C2-type 5
Glycosylation
433 – 433
N-linked (GlcNAc...) asparagine
Disulfide bond
448 – 497
Literature citations
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M.; Rosenthal A.; Armstrong G.; Macfarlane J.; Stevenson R.; Paterson J.; Metzenberg A.; Ionasescu V.; Temple K.; Kenwrick S.;
Nat. Genet. 7:402-407(1994)
Cited for: INVOLVEMENT IN MASA; INVOLVEMENT IN HSAS; VARIANTS HSAS GLN-184 AND ARG-452; VARIANT MASA GLN-210;
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: VARIANT HSAS/MASA LEU-1194; VARIANTS HSAS GLN-184; TYR-264 AND ARG-452; VARIANTS MASA GLN-210 AND ASN-598;
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.