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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92508: Variant p.Thr2127Met

Piezo-type mechanosensitive ion channel component 1
Gene: PIEZO1
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Variant information Variant position: help 2127 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 Threonine (T) to Methionine (M) at position 2127 (T2127M, p.Thr2127Met). 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 polar (T) to medium size and hydrophobic (M) 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 DHS1; gives rise to mechanically activated currents that inactivate more slowly than wild-type currents. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2521 The length of the canonical sequence.
Location on the sequence: help QGFRLVPFLVELRAVMDWVW T DTTLSLSSWMCVEDIYANIF 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                         QGFRLVPFLVELRAVMDWVWTDTTLSLSSWMCVEDIYANIF

Mouse                         QGFRLVPFLVELRAVMDWVWTDTTLSLSNWMCVEDIYANIF

Rat                           QGFRLVPFLVELRAVMDWVWTDTTLSLSNWMCVEDIYANIF

Caenorhabditis elegans        KVFMNIPFLFELRTAIDWTWTDTSMPLFDFFNMENFYAHIF
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 – 2521 Piezo-type mechanosensitive ion channel component 1



Literature citations
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Andolfo I.; Alper S.L.; De Franceschi L.; Auriemma C.; Russo R.; De Falco L.; Vallefuoco F.; Esposito M.R.; Vandorpe D.H.; Shmukler B.E.; Narayan R.; Montanaro D.; D'Armiento M.; Vetro A.; Limongelli I.; Zuffardi O.; Glader B.E.; Schrier S.L.; Brugnara C.; Stewart G.W.; Delaunay J.; Iolascon A.;
Blood 121:3925-3935(2013)
Cited for: VARIANTS DHS1 SER-718; SER-782; GLN-808; LEU-1117; ASP-2003; VAL-2020; MET-2127; 2166-LYS--LYS-2169 DEL; HIS-2456 AND GLN-2488; CHARACTERIZATION OF VARIANTS DHS1 HIS-2456 AND GLN-2488; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J.; Murthy S.E.; Bandell M.; Coste B.; Louis-Dit-Picard H.; Mathur J.; Feneant-Thibault M.; Tertian G.; de Jaureguiberry J.P.; Syfuss P.Y.; Cahalan S.; Garcon L.; Toutain F.; Simon Rohrlich P.; Delaunay J.; Picard V.; Jeunemaitre X.; Patapoutian A.;
Nat. Commun. 4:1884-1884(2013)
Cited for: VARIANTS DHS1 PRO-1358; THR-2020; MET-2127 AND LEU-GLU-2496 INS; CHARACTERIZATION OF VARIANTS DHS1 PRO-1358; THR-2020; MET-2127; LEU-GLU-2496 INS; ARG-2225 AND HIS-2456; FUNCTION; SUBCELLULAR LOCATION;
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.