Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 480 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 MQIPRAALLP-------LLLLLLAAP ASAQLSRAGRSAPLAAGCPDR
Mouse MQSLRTTLLS-------LLLLLLAAP SLALPSGTGRSAPA
Rat MQFLRTALLS-------LLLLLLAAP SLALPSGISRSAPA
Bovine MQPPRAPFLPPPTPPLLLLLLLLAAP ASAQPARAGRSAPG
Xenopus laevis -----MTMLW-------LAVLLTCGA PAALLPTSG-----
Xenopus tropicalis -----MAMLW-------LAVLLTCGA PAALLPTSG-----
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
1 – 22
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E.; Herve D.; Scharrer E.; del Mar Amador M.; Guyant-Marechal L.; Philippi A.; Corlobe A.; Bergametti F.; Gazal S.; Prieto-Morin C.; Beaufort N.; Le Bail B.; Viakhireva I.; Dichgans M.; Chabriat H.; Haffner C.; Tournier-Lasserve E.;
Cited for: INVOLVEMENT IN CADASIL2; VARIANTS CADASIL2 ARG-121; SER-123; GLY-133; LEU-166; PRO-173; ARG-284; GLY-284; GLN-285; VAL-286 AND HIS-450; VARIANTS VAL-20 AND GLY-51; CHARACTERIZATION OF VARIANTS CADASIL2 ARG-121; LEU-166; PRO-173; ARG-284; GLY-284; GLN-285; VAL-286 AND HIS-450;
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