Variant position: 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 399 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 LKKYDLLCLYYHEPVSSDKV TQKQFQLKEIVLELVAQVLEH
Mouse LKRYDLLCLYYHEPVSSDKV SQKQFQLKEIVLELVAQVLEH
Rat LKRYDLLCLYYHEPVSSDKV AQKQFQLKEIVLELVAQVLEH
Rabbit LKKYDLLCLYYHAPVSADKV AQKQFQLKEIVLELVAQVLEH
Chicken LKKYDMLCLLFHEPVSSDRV SQKQFQMTEMVLELAAQVLEP
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
20 – 399 Calsequestrin-2
Characterization of human cardiac calsequestrin and its deleterious mutants.
Kim E.; Youn B.; Kemper L.; Campbell C.; Milting H.; Varsanyi M.; Kang C.;
J. Mol. Biol. 373:1047-1057(2007)
Cited for: X-RAY CRYSTALLOGRAPHY (3.8 ANGSTROMS) OF 22-399; SUBUNIT; FUNCTION; CHARACTERIZATION OF VARIANTS CPVT2 GLN-33; HIS-167 AND HIS-307; CHARACTERIZATION OF VARIANTS ALA-66 AND MET-76;
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
Laitinen P.J.; Swan H.; Kontula K.;
Eur. J. Hum. Genet. 11:888-891(2003)
Cited for: VARIANTS ALA-66 AND MET-76;
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