UniProtKB/Swiss-Prot P21817: Variant p.Thr4637Ile

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position:

4637 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 Isoleucine (I) at position 4637 (T4637I, p.Thr4637Ile). 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 medium size and hydrophobic (I) 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
Variant description:

In core/rod disease. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118192134 [ dbSNP | Ensembl ]

Sequence information Variant position:

4637 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:

GEEAEGDEDENMVYYFLEES T GYMEPALRCLSLLHTLVAFL 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                         GEEAEGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFL

Mouse                         GEEVEGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFL

Rat                           SEEVEGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFL

Pig                           GEEVEGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFL

Rabbit                        GEEAEGDEDENMVYYFLEESTGYMEPALWCLSLLHTLVAFL

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	4581 – 4641	Lumenal

Literature citations
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis M.R.; Haan E.; Jungbluth H.; Sewry C.; North K.; Muntoni F.; Kuntzer T.; Lamont P.; Bankier A.; Tomlinson P.; Sanchez A.; Walsh P.; Nagarajan L.; Oley C.; Colley A.; Gedeon A.; Quinlivan R.; Dixon J.; James D.; Mueller C.R.; Laing N.G.;
Neuromuscul. Disord. 13:151-157(2003)
Cited for: VARIANT CORE/ROD DISEASE ILE-4637; VARIANTS CMYP1A ASP-4638; PRO-4651; CYS-4861; HIS-4861; GLN-4893; THR-4898; GLY-4914; THR-4914; 4927-VAL-ILE-4928 DEL AND THR-4940;

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.