Variant position: 970 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1214 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 GLLRPRDSDFPSILRRVFYR PYLQIFGQIPQEDMDVALMEH
Mouse GILRPQDRSLPSILRRVFYR PYLQIFGQIPQEEMDVALMIP
Rat GILRPQDRSLPSILRRVFYR PYLQIFGQIPQEEMDVALMNP
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 – 1214 Transient receptor potential cation channel subfamily M member 4
964 – 984 Pore-forming
977 – 977 Q -> E. Alters the monovalent cation permeability sequence and results in a pore with moderate Ca(2+) permeability.
981 – 981 E -> A. Results in a channel with normal permeability properties but with a reduced sensitivity to block by intracellular spermine.
982 – 982 D -> A. Results in a functional channel that exhibits extremely fast desensitization, possibly indicating destabilization of the pore.
984 – 984 D -> A. Results in a non-functional channel with a dominant negative phenotype.
968 – 972
Mutational spectrum in the Ca(2+) -activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.
Stallmeyer B.; Zumhagen S.; Denjoy I.; Duthoit G.; Hebert J.L.; Ferrer X.; Maugenre S.; Schmitz W.; Kirchhefer U.; Schulze-Bahr E.; Guicheney P.; Schulze-Bahr E.;
Hum. Mutat. 33:109-117(2012)
Cited for: VARIANTS PFHB1B HIS-131; ARG-293; THR-432; SER-582; HIS-790; ASP-844; ARG-914 AND SER-970; VARIANTS THR-101; CYS-103; HIS-252; LYS-487 DEL; ALA-561; ARG-854 AND LEU-1204;
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.