UniProtKB/Swiss-Prot Q08289: Variant p.Ser535Leu

Voltage-dependent L-type calcium channel subunit beta-2
Gene: CACNB2
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Variant information Variant position:

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

US 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 Serine (S) to Leucine (L) at position 535 (S535L, p.Ser535Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

In BRGDA4; uncertain significance; affects channel activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121917812 [ dbSNP | Ensembl ]

Sequence information Variant position:

535 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

660 The length of the canonical sequence.
Location on the sequence:

QAEEEPSVEPVKKSQHRSSS S APHHNHRSGTSRGLSRQETF 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                         QAEEEPSVEPVKKSQHRSSSSAPHHNHRSGTSRGLSRQETF

Mouse                         QAEEEPCLEPVKKSQHR-SSSATHQNHRSGTGRGLSRQETF

Rat                           QAEEEPCLEPVKKSQHR-SSSATHQNHRSGTGRGLSRQETF

Bovine                        QAEEEHCPEPVKKAQHR--SSTQHHNHRSGTSRGLSRQETL

Rabbit                        QAEEEPCLEPAKKSQHRSSSSAPHHNHRSGTSRGLSRQETF

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	1 – 660	Voltage-dependent L-type calcium channel subunit beta-2
Region	486 – 641	Disordered
Site	549 – 549	Required for CaMK2D-binding
Modified residue	550 – 550	Phosphoserine
Modified residue	554 – 554	Phosphothreonine; by CaMK2D

Literature citations
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
Antzelevitch C.; Pollevick G.D.; Cordeiro J.M.; Casis O.; Sanguinetti M.C.; Aizawa Y.; Guerchicoff A.; Pfeiffer R.; Oliva A.; Wollnik B.; Gelber P.; Bonaros E.P. Jr.; Burashnikov E.; Wu Y.; Sargent J.D.; Schickel S.; Oberheiden R.; Bhatia A.; Hsu L.F.; Haissaguerre M.; Schimpf R.; Borggrefe M.; Wolpert C.;
Circulation 115:442-449(2007)
Cited for: VARIANT BRGDA4 LEU-535; CHARACTERIZATION OF VARIANT BRGDA4 LEU-535;

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.