UniProtKB/Swiss-Prot P21817: Variant p.Pro1787Leu

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position:

1787 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 Leucine (L) at position 1787 (P1787L, p.Pro1787Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Probable risk factor for MHS1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs34934920 [ dbSNP | Ensembl ]

Sequence information Variant position:

1787 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:

VTTSLRPPHHFSPPCFVAAL P AAGAAEAPARLSPAIPLEAL 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                         VTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSPAIPLEAL

Mouse                         VTTSLRPPHHFSPPCFVVALPAAGATEAPARLSPAIPLEAL

Rat                           VTTSLRPPHHFSPPCFVVALPAAGAAEAPARLSPAIPLEAL

Pig                           VTTSLRPPHHFSAPCFVAALPAVGAAEAPARLSPSIPLEAL

Rabbit                        VTTSLRPPHHFSPPCFVAALPAAGVAEAPARLSPAIPLEAL

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	841 – 2959	6 X approximate repeats

Literature citations
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
Gillard E.F.; Otsu K.; Fujii J.; Duff C.L.; de Leon S.; Khanna V.K.; Britt B.A.; Worton R.G.; McLennan D.H.;
Genomics 13:1247-1254(1992)
Cited for: SEQUENCE REVISION TO 2324; 2840 AND 3380; INVOLVEMENT IN MHS1; VARIANT MHS1 ARG-248; VARIANTS CYS-471; LEU-1787; CYS-2060 AND VAL-2550; Increasing the number of diagnostic mutations in malignant hyperthermia.
Levano S.; Vukcevic M.; Singer M.; Matter A.; Treves S.; Urwyler A.; Girard T.;
Hum. Mutat. 30:590-598(2009)
Cited for: VARIANTS MHS1 ARG-13; LYS-226; LEU-367; HIS-530; TYR-544; CYS-1043; HIS-2336; LYS-2404; GLY-2730; LYS-2880; PRO-3217; LYS-3290; TRP-3772; ARG-3806; VAL-4838; ARG-4876 AND THR-4938; VARIANTS GLY-1342; GLY-1352; LEU-1787; ALA-1832; CYS-2060; VAL-2321; VAL-2550; TRP-2676; SER-2787; GLN-3583; GLU-3756 AND LEU-4501; 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 CMYP1A GLY-160; GLN-2204; HIS-3366; CYS-3933 AND ASP-4743; VARIANTS LEU-1787; CYS-2060 AND ALA-4493; Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom B.W.; Bina S.; Wong C.A.; Wallace T.; Visoiu M.; Isackson P.J.; Vladutiu G.D.; Sambuughin N.; Muldoon S.M.;
Anesth. Analg. 116:1078-1086(2013)
Cited for: VARIANTS MHS1 ALA-40; CYS-163; ARG-248; ARG-341; PRO-487; ALA-518; CYS-614; HIS-1043; HIS-2163; MET-2206; HIS-2248; HIS-2351; MET-2354; LEU-2358; GLN-2383; ARG-2434; HIS-2454; ARG-3711; VAL-4178; ARG-4230; GLU-4837; HIS-4861 AND GLY-4906; VARIANTS CMYP1A TRP-975; MET-2168 AND GLY-3238; VARIANTS MET-974; LEU-1109; ARG-1393; LEU-1787; CYS-2060 AND VAL-2321;

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.