UniProtKB/Swiss-Prot Q92508: Variant p.Glu2407Lys

Piezo-type mechanosensitive ion channel component 1
Gene: PIEZO1
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Variant information Variant position:

2407 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Glutamate (E) to Lysine (K) at position 2407 (E2407K, p.Glu2407Lys). 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:

Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Polymorphism:

PIEZO1 is responsible for the Er blood group system (ER) [MIM:620207]. At least five antigens have been identified: Er(a), Er(b), Er(3), Er(4), and Er(5). The molecular basis of the Er(a)/Er(b) polymorphism is a single variation at position 2394; Gly-2394 corresponds to Er(a) and Ser-2394 to Er(b), while the Er(3) antigen is recognized by antibodies produced by Er(a-b-) individuals. The Er(4) and Er(5) antigens are defined by Glu-2407 and Arg-2245, respectively. Alloantibodies against Er(4) and Er(5) are associated with hemolytic disease of the fetus and newborn. Additional information on the polymorphism described.
Variant description:

Found in Er(4-) blood group phenotype. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs200291894 [ dbSNP | Ensembl ]

Sequence information Variant position:

2407 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2521 The length of the canonical sequence.
Location on the sequence:

IQLRREQGAGATGFLEWWVI E LQECRTDCNLLPMVIFSDKV 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         IQLRREQ-GAG-------ATG---------FLEWWVIELQECRTDCNLLPMVIFSDKV

Mouse                         IQLRREQVGTG-------ASGEQAGTKASDFLEWWVIELQD

Rat                           IQLRREQVGTG-------TSGEQAGTKASDFLEWWVIELQD

Caenorhabditis elegans        LTLNLEQ-GKSQNEKMWIATSEHPGDQNAKL---WIKTANT

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	1 – 2521	Piezo-type mechanosensitive ion channel component 1
Topological domain	2198 – 2431	Extracellular

Literature citations
Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.
Karamatic Crew V.; Tilley L.A.; Satchwell T.J.; AlSubhi S.A.; Jones B.; Spring F.A.; Walser P.J.; Martins Freire C.; Murciano N.; Rotordam M.G.; Woestmann S.J.; Hamed M.; Alradwan R.; AlKhrousey M.; Skidmore I.; Lewis S.; Hussain S.; Jackson J.; Latham T.; Kilby M.D.; Lester W.; Becker N.; Rapedius M.; Toye A.M.; Thornton N.M.;
Blood 141:135-146(2023)
Cited for: POLYMORPHISM; INVOLVEMENT IN ER BLOOD GROUP SYSTEM; VARIANTS 1763-TYR--GLU-2521 DEL; GLN-2245; LYS-2392; SER-2394; GLN-2407 AND LYS-2407;

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.