Variant position: 802 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2752 The length of the canonical sequence.
Location on the sequence:
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 FTVAELFTRIFIPTSFLLVC ILHLHYFHDRFLELTDLKSIP
Mouse FTVAELFTRIFIPTSFLLVC ILHLHYFHDRFLELTDLKSIP
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
1 – 2752 Piezo-type mechanosensitive ion channel component 2
782 – 802 Helical
1 – 2043 Missing. In isoform 3.
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis.
Coste B.; Houge G.; Murray M.F.; Stitziel N.; Bandell M.; Giovanni M.A.; Philippakis A.; Hoischen A.; Riemer G.; Steen U.; Steen V.M.; Mathur J.; Cox J.; Lebo M.; Rehm H.; Weiss S.T.; Wood J.N.; Maas R.L.; Sunyaev S.R.; Patapoutian A.;
Proc. Natl. Acad. Sci. U.S.A. 110:4667-4672(2013)
Cited for: VARIANTS DA5 PHE-802 AND GLU-2727 DEL; CHARACTERIZATION OF VARIANTS DA5 PHE-802 AND GLU-2727 DEL;
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.