Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92743: Variant p.Ser121Arg

Serine protease HTRA1
Gene: HTRA1
Feedback?
Variant information Variant position: help 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Arginine (R) at position 121 (S121R, p.Ser121Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CADASIL2. Any additional useful information about the variant.


Sequence information Variant position: help 121 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 480 The length of the canonical sequence.
Location on the sequence: help VRRRAQAGLCVCASSEPVCG S DANTYANLCQLRAASRRSER 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VRRRAQAGLCVCASSEPVCGSDANTYANLCQLRAASRRSER

Mouse                         VRRRAQAGLCVCASSEPVCGSDAKTYTNLCQLRAASRRSEK

Rat                           VRRRAQAGLCVCASSEPVCGSDAKTYTNLCQLRAASRRSEK

Bovine                        VRRRAQSGLCVCASNEPVCGSDAKTYTNLCQLRAASRRSER

Xenopus laevis                ---------CQCPSNQPVCGSDGKTYSSLCRLQAESKAVQG

Xenopus tropicalis            ---------CQCPSNLPVCGSDGKTYPSLCRLQAESKAAQG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 23 – 480 Serine protease HTRA1
Domain 98 – 157 Kazal-like
Disulfide bond 112 – 130
Disulfide bond 119 – 155
Beta strand 118 – 123



Literature citations
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.;
Brain 138:2347-2358(2015)
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;
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.