Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5T3F8: Variant p.Val463Ile

Mechanosensitive cation channel TMEM63B
Gene: TMEM63B
Feedback?
Variant information Variant position: help 463 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 Valine (V) to Isoleucine (I) at position 463 (V463I, p.Val463Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 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 DEE118; constitutive phospholipid scramblase activity. Any additional useful information about the variant.


Sequence information Variant position: help 463 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 832 The length of the canonical sequence.
Location on the sequence: help ILLFFLTTPAIIITTMDKFN V TKPVEYLNNPIITQFFPTLL 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                         ILLFFLTTPAIIITTMDKFNVTKPVEYLNNPIITQFFPTLL

Mouse                         ILLFFLTTPAIIITTMDKFNVTKPVEYLNNPIITQFFPTLL

Chicken                       ILLFFLTTPAIIITTMDKFNVTKPVEYLNNPIITQFFPTLL
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 – 832 Mechanosensitive cation channel TMEM63B
Topological domain 458 – 472 Extracellular
Glycosylation 462 – 462 N-linked (GlcNAc...) asparagine



Literature citations
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A.; Pelorosso C.; Balestrini S.; Masi A.; Hambleton S.; Argilli E.; Conti V.; Giubbolini S.; Barrick R.; Bergant G.; Writzl K.; Bijlsma E.K.; Brunet T.; Cacheiro P.; Mei D.; Devlin A.; Hoffer M.J.V.; Machol K.; Mannaioni G.; Sakamoto M.; Menezes M.P.; Courtin T.; Sherr E.; Parra R.; Richardson R.; Roscioli T.; Scala M.; von Stuelpnagel C.; Smedley D.; Torella A.; Tohyama J.; Koichihara R.; Hamada K.; Ogata K.; Suzuki T.; Sugie A.; van der Smagt J.J.; van Gassen K.; Valence S.; Vittery E.; Malone S.; Kato M.; Matsumoto N.; Ratto G.M.; Guerrini R.;
Am. J. Hum. Genet. 110:1356-1376(2023)
Cited for: INVOLVEMENT IN DEE118; VARIANTS DEE118 MET-44; HIS-433; GLU-459; ILE-463; ILE-475 DEL; ASN-481; SER-580; CYS-580; THR-660 AND LEU-697; CHARACTERIZATION OF VARIANTS DEE118 MET-44; HIS-433; ASN-481; SER-580; THR-660 AND LEU-697;
Membrane structure-responsive lipid scramblase activity of the TMEM63/OSCA family.
Miyata Y.; Nishimura M.; Nagata A.; Jing X.; Sultan C.S.; Kuribayashi R.; Takahashi K.; Lee Y.; Nishizawa T.; Segawa K.;
FEBS Lett. 0:0-0(2024)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN DEE118; CHARACTERIZATION OF VARIANTS DEE118 MET-44; HIS-433; GLU-459; ILE-463; ILE-475 DEL; ASN-481; SER-580; CYS-580; THR-660 AND LEU-697;
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.