Variant position: 370 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 ARLDCQVQGRPQPEVTWRIN GIPVEELAKDQKYRIQRGALI
Mouse ARLDCQVQGRPQPEITWRIN GMSMETVNKDQKYRIEQGSLI
Rat ARLDCQVQGRPQPEVTWRIN GMSIEKVNKDQKYRIEQGSLI
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.
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
Ruiz J.C.; Cuppens H.; Legius E.; Fryns J.-P.; Glover T.; Marynen P.; Cassiman J.-J.;
J. Med. Genet. 32:549-552(1995)
Cited for: INVOLVEMENT IN MASA; INVOLVEMENT IN HSAS; VARIANTS HSAS/MASA SER-179 AND ARG-370;
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;
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.