Variant position: 511 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2214 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 RMPILSKESAPGLIIATGSV GKNLASKTNVYISSSAGARWR
Mouse RMPILSKESAPGLIIATGSV GKNLASKTNVYISSSAGARWR
Rat RMPILSKESAPGLIIATGSV GKNLASKTNVYISSSAGARWR
Rabbit RMPILSKESAPGLIIATGSV GKNLASKTNVYISSSAGARWR
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
82 – 2214 Sortilin-related receptor
82 – 2137 Lumenal
Lysosomal sorting of amyloid-beta by the SORLA receptor is impaired by a familial Alzheimer's disease mutation.
Caglayan S.; Takagi-Niidome S.; Liao F.; Carlo A.S.; Schmidt V.; Burgert T.; Kitago Y.; Fuechtbauer E.M.; Fuechtbauer A.; Holtzman D.M.; Takagi J.; Willnow T.E.;
Sci. Transl. Med. 6:223RA20-223RA20(2014)
Cited for: FUNCTION; INTERACTION WITH APP AND PROPEPTIDE; CHARACTERIZATION OF VARIANT AD ARG-511;
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
Pottier C.; Hannequin D.; Coutant S.; Rovelet-Lecrux A.; Wallon D.; Rousseau S.; Legallic S.; Paquet C.; Bombois S.; Pariente J.; Thomas-Anterion C.; Michon A.; Croisile B.; Etcharry-Bouyx F.; Berr C.; Dartigues J.F.; Amouyel P.; Dauchel H.; Boutoleau-Bretonniere C.; Thauvin C.; Frebourg T.; Lambert J.C.; Campion D.;
Mol. Psychiatry 17:875-879(2012)
Cited for: VARIANTS AD CYS-141; ARG-511; SER-924; SER-1358 AND ASP-1681;
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.