Variant position: 844 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 LLCEELRQGLSGGGGSLASG GPGPGHASLSQRLRLYLADSW
Mouse LLCEELRQGLGGGWGSLASG GRGPDRAPLRHRLHLYLSDTW
Rat LLCEELRQGLGGGWGTLANG GPGPGKAPLRHRLHLYLLDTW
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
836 – 863 Cytoplasmic
828 – 828 Calcium
831 – 831 Calcium
738 – 882 Missing. In isoform 3.
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease.
Liu H.; El Zein L.; Kruse M.; Guinamard R.; Beckmann A.; Bozio A.; Kurtbay G.; Megarbane A.; Ohmert I.; Blaysat G.; Villain E.; Pongs O.; Bouvagnet P.;
Circ. Cardiovasc. Genet. 3:374-385(2010)
Cited for: VARIANTS PFHB1B TRP-164; THR-432 AND ASP-844;
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.