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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92508: Variant p.Ala2003Asp

Piezo-type mechanosensitive ion channel component 1
Gene: PIEZO1
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Variant information Variant position: help 2003 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 Alanine (A) to Aspartate (D) at position 2003 (A2003D, p.Ala2003Asp). 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 hydrophobic (A) to medium size and acidic (D) 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 DHS1. Any additional useful information about the variant.


Sequence information Variant position: help 2003 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 GKHSAATDITSSLSDDQVPE A FLVMLLIQFSTMVVDRALYL 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                         GKHSAATDITSSLSDDQVPEAFLVMLLIQFSTMVVDRALYL

Mouse                         GKHSAATDIASSLSDDQVPQAFLFMLLVQFGTMVIDRALYL

Rat                           GKHSAATDIASSLSDDQVPQAFLFMLLVQFGTMVIDRALYL

Caenorhabditis elegans        GE-GGSGNVLDDVKASRIPVTLVVMLVGMTLAIIIDRALYL
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
Transmembrane 2003 – 2023 Helical



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;
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.