UniProtKB/Swiss-Prot O14958: Variant p.Thr66Ala

Calsequestrin-2
Gene: CASQ2
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Variant information Variant position:

66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Threonine (T) to Alanine (A) at position 66 (T66A, p.Thr66Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

No effect on calcium-binding and calcium-dependent dimerization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4074536 [ dbSNP | Ensembl ]

Sequence information 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:

LKKYDLLCLYYHEPVSSDKV T QKQFQLKEIVLELVAQVLEH 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                         LKKYDLLCLYYHEPVSSDKVTQKQFQLKEIVLELVAQVLEH

                              LKKYDVLCLYYHESVSSDKVAQKQFQLKEIVLELVAQVLEH

Mouse                         LKRYDLLCLYYHEPVSSDKVSQKQFQLKEIVLELVAQVLEH

Rat                           LKRYDLLCLYYHEPVSSDKVAQKQFQLKEIVLELVAQVLEH

Rabbit                        LKKYDLLCLYYHAPVSADKVAQKQFQLKEIVLELVAQVLEH

Chicken                       LKKYDMLCLLFHEPVSSDRVSQKQFQMTEMVLELAAQVLEP

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
Chain	20 – 399	Calsequestrin-2

Literature citations
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;

Disclaimer: 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.