UniProtKB/Swiss-Prot P21817: Variant p.Gly2060Cys

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position:

2060 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 Glycine (G) to Cysteine (C) at position 2060 (G2060C, p.Gly2060Cys). 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 glycine (G) to medium size and polar (C) 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 rs35364374 [ dbSNP | Ensembl ]

Sequence information Variant position:

2060 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:

AHCGIQLDGEEEEPEEETTL G SRLMSLLEKVRLVKKKEEKP 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                         AHCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKP

Mouse                         AHCGIQLEGEEEEPEEESTLGSRLMSLLEKVKLVKKTEEKP

Rat                           AHCGIQLEGEEEEPEEESTLGSRLMSLLEKVRLVKKKEEKP

Pig                           THCGIQLEGEEEEPEEEATLGSRLMSLLEKVRLVKKKEEKS

Rabbit                        AHCGIQLEGEEEEPEEETSLSSRLRSLLETVRLVKKKEEKP

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; Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Jungbluth H.; Zhou H.; Hartley L.; Halliger-Keller B.; Messina S.; Longman C.; Brockington M.; Robb S.A.; Straub V.; Voit T.; Swash M.; Ferreiro A.; Bydder G.; Sewry C.A.; Mueller C.; Muntoni F.;
Neurology 65:1930-1935(2005)
Cited for: VARIANTS CMYP1B TRP-109 AND LYS-2423; VARIANTS VAL-485 AND CYS-2060; 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; Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.
Tammaro A.; Di Martino A.; Bracco A.; Cozzolino S.; Savoia G.; Andria B.; Cannavo A.; Spagnuolo M.; Piluso G.; Aurino S.; Nigro V.;
Clin. Genet. 79:438-447(2011)
Cited for: VARIANTS MHS1 ASN-1056; HIS-1127; ARG-1467; VAL-1571; GLN-2013; GLY-2400; GLY-2593; GLN-3410; TYR-3501 AND CYS-3933; VARIANTS LYS-899; CYS-2060; CYS-2248; TYR-2976 AND GLN-3360; 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.