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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43462: Variant p.Leu505Phe

Membrane-bound transcription factor site-2 protease
Gene: MBTPS2
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Variant information Variant position: help 505 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 Leucine (L) to Phenylalanine (F) at position 505 (L505F, p.Leu505Phe). 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 medium size and hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 OI19; decreased regulated intramembrane proteolysis resulting in reduced transcriptional activation of genes relevant to osteoblast differentiation and bone formation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 505 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 519 The length of the canonical sequence.
Location on the sequence: help GDNDVKDLIGFFILLGGSVL L AANVTLGLWMVTAR 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                         GDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR

Mouse                         GDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR

Bovine                        GDNDVKDLIGFFILLGGSILLAANVALGLWMVTAR
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 1 – 519 Membrane-bound transcription factor site-2 protease
Transmembrane 493 – 513 Helical



Literature citations
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U.; Cabral W.A.; Ausavarat S.; Tongkobpetch S.; Ludin K.; Barnes A.M.; Yeetong P.; Weis M.; Krabichler B.; Srichomthong C.; Makareeva E.N.; Janecke A.R.; Leikin S.; Roethlisberger B.; Rohrbach M.; Kennerknecht I.; Eyre D.R.; Suphapeetiporn K.; Giunta C.; Marini J.C.; Shotelersuk V.;
Nat. Commun. 7:11920-11920(2016)
Cited for: FUNCTION; INVOLVEMENT IN OI19; VARIANTS OI19 SER-459 AND PHE-505; CHARACTERIZATION OF VARIANTS OI19 SER-459 AND PHE-505;
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.