UniProtKB/Swiss-Prot P21817: Variant p.Pro4493Ala

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position:

4493 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 Proline (P) to Alanine (A) at position 4493 (P4493A, p.Pro4493Ala). 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 hydrophobic (P) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Other resources:

Links to websites of interest for the variant.

Variant rs149455643 [ dbSNP | Ensembl ]

Sequence information Variant position:

4493 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

5038 The length of the canonical sequence.
Location on the sequence:

ILKRKLGVDGVEEELPPEPE P EPEPELEPEKADAENGEKEE 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                         ILKRKLGVDGVEEELPPEPEPEPEPELEPEKADAENGEKEE

Mouse                         ILKRKLGVDGEEEEPPPEPEPEPEP--EPEKADTENGEK-E

Rat                           ILKRKLGVDGEEEEPQPEPEPEPEP--EPEKADTENGEK-E

Pig                           IIKRKLGVDGEEEELPPEPEPEPEP--EPEKADAENGEKEE

Rabbit                        ILKRKLGVDGEEEELVPEPEPEPEP--EPEKADEENGEKEE

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 – 5038	Ryanodine receptor 1
Topological domain	1 – 4559	Cytoplasmic
Region	4382 – 4538	Disordered
Compositional bias	4485 – 4501	Acidic residues

Literature citations
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte S.T.; Oliveira J.; Santos R.; Pereira P.; Barroso C.; Conceicao I.; Evangelista T.;
Muscle Nerve 44:102-108(2011)
Cited for: VARIANTS CMYO1A GLY-160; GLN-2204; HIS-3366; CYS-3933 AND ASP-4743; VARIANTS LEU-1787; CYS-2060 AND ALA-4493;

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.