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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43462: Variant p.Phe475Ser

Membrane-bound transcription factor site-2 protease
Gene: MBTPS2
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Variant information Variant position: help 475 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 Phenylalanine (F) to Serine (S) at position 475 (F475S, p.Phe475Ser). 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 large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 IFAP1; does not affect subcellular localization; impairs activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 475 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 LAIVNAVPCFALDGQWILNS F LDATLTSVIGDNDVKDLIGF 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                         LAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGF

Mouse                         LAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGF

Bovine                        LAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGF
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 465 – 476 Helical
Mutagenesis 467 – 467 D -> N. Loss of activity.



Literature citations
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Oeffner F.; Fischer G.; Happle R.; Konig A.; Betz R.C.; Bornholdt D.; Neidel U.; Boente Mdel C.; Redler S.; Romero-Gomez J.; Salhi A.; Vera-Casano A.; Weirich C.; Grzeschik K.H.;
Am. J. Hum. Genet. 84:459-467(2009)
Cited for: SUBCELLULAR LOCATION; VARIANTS IFAP1 ILE-87; LEU-226; LEU-227; HIS-429 AND SER-475; CHARACTERIZATION OF VARIANTS IFAP1 ILE-87; LEU-226; LEU-227; HIS-429 AND SER-475;
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.