Variant position: 165 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 QSVPYGMAVVVRSPLRTSLS SLRSEHSNGTVAPDSPASPAS
Mouse QSVPYGMAVVVRSPLRTSLS SLRSEHSNGTVAPD---SPAA
Rat QSVPYGMAVVVRSPLRTSLS SLRSEHSNGTVAPD---SPAA
Rabbit QSVPYGMAVVVRSPLRTSLS SLRSEHSNGTVAPDSPASPAA
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
165 – 165 Phosphoserine
130 – 696 Missing. In isoform 2.
S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle.
Woo J.S.; Hwang J.H.; Ko J.K.; Weisleder N.; Kim do H.; Ma J.; Lee E.H.;
Biochem. J. 427:125-134(2010)
Cited for: PHOSPHORYLATION AT SER-165; INTERACTION WITH TRPC3; FUNCTION; CHARACTERIZATION OF VARIANT PHE-165;
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;
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.