Variant position: 2386 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4967 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 SGSSKTLDTEEEEDDTIHMG NAIMTFYSALIDLLGRCAPEM
Mouse SGSSKTLDIEEEEDDTIHMG NAIMTFYAALIDLLGRCAPEM
Rat SGSSKTLDAEEEEDDTIHMG NAIMTFYAALIDLLGRCAPEM
Rabbit SGSSKTLDTEEEEDDTIHMG NAIMTFYAALIDLLGRCAPEM
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 – 4967 Ryanodine receptor 2
1 – 4281 Cytoplasmic
853 – 2925 4 X approximate repeats
2369 – 2369 Phosphoserine
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
Tiso N.; Stephan D.A.; Nava A.; Bagattin A.; Devaney J.M.; Stanchi F.; Larderet G.; Brahmbhatt B.; Brown K.; Bauce B.; Muriago M.; Basso C.; Thiene G.; Danieli G.A.; Rampazzo A.;
Hum. Mol. Genet. 10:189-194(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARVD2 GLN-176; PRO-433; ILE-2386 AND MET-2504;
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.
Bauce B.; Rampazzo A.; Basso C.; Bagattin A.; Daliento L.; Tiso N.; Turrini P.; Thiene G.; Danieli G.A.; Nava A.;
J. Am. Coll. Cardiol. 40:341-349(2002)
Cited for: VARIANTS CPVT1 GLN-176; TRP-420; PRO-433; ILE-2386; CYS-2392 AND MET-2504;
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.