Variant position: 598 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:
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 IHSLDYSDQGNYSCVASTEL DVVESRAQLLVVGSPGPVPRL
Mouse IQSLDYSDQGNYSCVASTEL DEVESRAQLLVVGSPGPVPHL
Rat IKSLDYSDQGDYSCVASTEL DEVESRAQLLVVGSPGPVPHL
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
20 – 1257 Neural cell adhesion molecule L1
20 – 1120 Extracellular
518 – 607 Ig-like C2-type 6
588 – 588 N-linked (GlcNAc...) asparagine
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: VARIANT HSAS/MASA LEU-1194; VARIANTS HSAS GLN-184; TYR-264 AND ARG-452; VARIANTS MASA GLN-210 AND ASN-598;
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.