Variant position: 505 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 PSPAGTPPQPKRPRPGVSKD GLLSPGAWNGEP----SGEGSRSVT
Mouse PSPAGTPPQPKRPRPGASKD GLLSPGSWNGEP----GGEGS
Rat PSPAGTPPQPKRPRPGSSKD GLLSPGAWNGEP----GGEGS
Rabbit PSPAGTPPQPKRPRPGASKD GLLGPGAWNGEPSGGSGGEGS
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
452 – 633 Pro-rich
486 – 486 Phosphoserine
490 – 490 Phosphothreonine
130 – 696 Missing. In isoform 2.
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y.; Furukawa T.; Kasanuki H.; Nishibatake M.; Kurihara Y.; Ikeda A.; Kamatani N.; Takeshima H.; Matsuoka R.;
J. Hum. Genet. 52:543-548(2007)
Cited for: VARIANTS CYS-436 AND SER-505; CHARACTERIZATION OF VARIANT SER-505;
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.