Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HBA0: Variant p.Lys197Arg

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
Feedback?
Variant information Variant position: help 197
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Arginine (R) at position 197 (K197R, p.Lys197Arg).
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and basic.
BLOSUM score: help 2
Variant description: help In MTD; lethal form; decreased protein stability; reduced ATP-binding.
Other resources: help


Sequence information Variant position: help 197
Protein sequence length: help 871
Location on the sequence: help KKRLTDEEFREPSTGKTCLP K ALLNLSNGRNDTIPVLLDIA
Residue conservation: help 
Human                         KKRLTDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIA

Mouse                         KKRLTDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIA

Rat                           KKRLTDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIA

Chicken                       KKRLTDEEFREPSTGKTCLPKALLNLSAGRNDTIPILLDIA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 871 Transient receptor potential cation channel subfamily V member 4
Topological domain 1 – 469 Cytoplasmic
Binding site 192 – 192
Binding site 197 – 197
Binding site 201 – 201
Helix 194 – 200



Literature citations
Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
Inada H.; Procko E.; Sotomayor M.; Gaudet R.;
Biochemistry 51:6195-6206(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (2.85 ANGSTROMS) OF 149-397 ALONE AND IN COMPLEX WITH ATP; MUTAGENESIS OF PHE-231; CHARACTERIZATION OF VARIANTS MTD ARG-197; PHE-199; ALA-295; PHE-331; THR-331 AND PHE-342; CHARACTERIZATION OF VARIANTS SMDK LYS-278 AND GLY-333; CHARACTERIZATION OF VARIANTS CMT2C CYS-232; HIS-269; TRP-315 AND CYS-316; CHARACTERIZATION OF VARIANT SPSMA CYS-316; CHARACTERIZATION OF VARIANT LYS-183; CHARACTERIZATION OF VARIANTS HMND8 CYS-232 AND HIS-269; Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Camacho N.; Krakow D.; Johnykutty S.; Katzman P.J.; Pepkowitz S.; Vriens J.; Nilius B.; Boyce B.F.; Cohn D.H.;
Am. J. Med. Genet. A 152:1169-1177(2010)
Cited for: VARIANTS MTD ILE-89; ARG-197; PHE-331; PHE-471 DEL; MET-604; LEU-617; PRO-618; LYS-797 AND LEU-799;
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.