Variant position: 101 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 696 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 LYKGEWTHGFKGRYGIRQSS SSGAKYEGTWNNGLQDGYGTE
Mouse LYKGEWTHGFKGRYGIRQST NSGAKYEGTWNNGLQDGYGTE
Rat LYKGEWTHGFKGRYGIRQST NSGAKYEGTWNNGLQDGYGTE
Rabbit LYKGEWTHGFKGRYGTRQST SSGAKYEGTWNNGLQDGYGTE
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 – 696 Junctophilin-2
1 – 674 Cytoplasmic
82 – 104 MORN 4
3 – 142 Gly-rich
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.
Landstrom A.P.; Weisleder N.; Batalden K.B.; Bos J.M.; Tester D.J.; Ommen S.R.; Wehrens X.H.; Claycomb W.C.; Ko J.K.; Hwang M.; Pan Z.; Ma J.; Ackerman M.J.;
J. Mol. Cell. Cardiol. 42:1026-1035(2007)
Cited for: VARIANTS CMH17 ARG-101; HIS-141 AND PHE-165; CHARACTERIZATION OF VARIANTS CMH17 ARG-101; HIS-141 AND PHE-165;
Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.
Bennett H.J.; Davenport J.B.; Collins R.F.; Trafford A.W.; Pinali C.; Kitmitto A.;
Biochem. J. 456:205-217(2013)
Cited for: MEMBRANE LIPID-BINDING; CHARACTERIZATION OF VARIANT CMH17 ARG-101;
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.