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Protein

Ryanodine receptor 1

Gene

RYR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium channel that mediates the release of Ca2+ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca2+ leaking into the cytoplasm. Can also mediate the release of Ca2+ from intracellular stores in neurons, and may thereby promote prolonged Ca2+ signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium, Calmodulin-binding

Enzyme and pathway databases

BioCyciZFISH:G66-31185-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.
R-HSA-5578775. Ion homeostasis.
SIGNORiP21817.

Protein family/group databases

TCDBi1.A.3.1.2. the ryanodine-inositol 1,4,5-triphosphate receptor ca(2+) channel (rir-cac) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Ryanodine receptor 1
Short name:
RYR-1
Short name:
RyR1
Alternative name(s):
Skeletal muscle calcium release channel
Skeletal muscle ryanodine receptor
Skeletal muscle-type ryanodine receptor
Type 1 ryanodine receptor
Gene namesi
Name:RYR1
Synonyms:RYDR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:10483. RYR1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 4326CytoplasmicSequence analysisAdd BLAST4326
Transmembranei4327 – 4347HelicalSequence analysisAdd BLAST21
Transmembranei4348 – 4368HelicalSequence analysisAdd BLAST21
Transmembranei4560 – 4580HelicalSequence analysisAdd BLAST21
Transmembranei4652 – 4672HelicalSequence analysisAdd BLAST21
Transmembranei4781 – 4801HelicalSequence analysisAdd BLAST21
Transmembranei4808 – 4828HelicalSequence analysisAdd BLAST21
Transmembranei4840 – 4860HelicalSequence analysisAdd BLAST21
Intramembranei4891 – 4900Pore-formingBy similarity10
Transmembranei4921 – 4941HelicalSequence analysisAdd BLAST21
Topological domaini4942 – 5038CytoplasmicSequence analysisAdd BLAST97

GO - Cellular componenti

  • calcium channel complex Source: GO_Central
  • cell cortex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • I band Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • junctional membrane complex Source: Ensembl
  • junctional sarcoplasmic reticulum membrane Source: BHF-UCL
  • plasma membrane Source: UniProtKB
  • sarcolemma Source: GO_Central
  • sarcoplasmic reticulum Source: BHF-UCL
  • sarcoplasmic reticulum membrane Source: UniProtKB
  • smooth endoplasmic reticulum Source: ProtInc
  • terminal cisterna Source: BHF-UCL
  • T-tubule Source: Ensembl
  • Z disc Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Involvement in diseasei

Malignant hyperthermia 1 (MHS1)41 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).
See also OMIM:145600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05856013L → R in MHS1. 1 PublicationCorresponds to variant rs193922744dbSNPEnsembl.1
Natural variantiVAR_00558935C → R in MHS1. 2 PublicationsCorresponds to variant rs193922747dbSNPEnsembl.1
Natural variantiVAR_07172140G → A in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_04569544R → C in CCD and MHS1. 1 PublicationCorresponds to variant rs193922748dbSNPEnsembl.1
Natural variantiVAR_005590163R → C in CCD and MHS1; 2-3% of the cases. 8 PublicationsCorresponds to variant rs118192161dbSNPEnsembl.1
Natural variantiVAR_045697163R → L in MHS1; induces an increase sensitivity to caffeine. 1 PublicationCorresponds to variant rs193922753dbSNPEnsembl.1
Natural variantiVAR_045698165G → R in MHS1. 1 PublicationCorresponds to variant rs193922754dbSNPEnsembl.1
Natural variantiVAR_045699166D → N in MHS1. 2 PublicationsCorresponds to variant rs193922755dbSNPEnsembl.1
Natural variantiVAR_045700177R → C in MHS1. 1 PublicationCorresponds to variant rs193922757dbSNPEnsembl.1
Natural variantiVAR_045701178Y → C in MHS1. 1 Publication1
Natural variantiVAR_058561226M → K in MHS1. 1 PublicationCorresponds to variant rs112596687dbSNPEnsembl.1
Natural variantiVAR_045703227D → V in MHS1. 1 PublicationCorresponds to variant rs193922760dbSNPEnsembl.1
Natural variantiVAR_005591248G → R in MHS1; unknown pathological significance. 5 PublicationsCorresponds to variant rs1801086dbSNPEnsembl.1
Natural variantiVAR_045704328R → W in MHS1; has increased sensitivity to both caffeine and halothane. 2 PublicationsCorresponds to variant rs193922762dbSNPEnsembl.1
Natural variantiVAR_005592341G → R in MHS1; 10% of the cases. 5 PublicationsCorresponds to variant rs28933997dbSNPEnsembl.1
Natural variantiVAR_058562367R → L in MHS1. 1 PublicationCorresponds to variant rs113332073dbSNPEnsembl.1
Natural variantiVAR_068510382H → N in MHS1. 1 Publication1
Natural variantiVAR_045705401R → C in MHS1. 2 PublicationsCorresponds to variant rs193922764dbSNPEnsembl.1
Natural variantiVAR_045706401R → H in MHS1. 2 PublicationsCorresponds to variant rs193922766dbSNPEnsembl.1
Natural variantiVAR_045707401R → S in MHS1. 1 Publication1
Natural variantiVAR_005593403I → M in CCD and MHS1. 2 PublicationsCorresponds to variant rs118192116dbSNPEnsembl.1
Natural variantiVAR_071722487L → P in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_071723518V → A in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_005595522Y → S in CCD and MHS1. 2 PublicationsCorresponds to variant rs118192162dbSNPEnsembl.1
Natural variantiVAR_058563530R → H in MHS1. 1 PublicationCorresponds to variant rs111888148dbSNPEnsembl.1
Natural variantiVAR_045708533R → C in MHS1. 1 PublicationCorresponds to variant rs193922768dbSNPEnsembl.1
Natural variantiVAR_008971533R → H in MHS1. Corresponds to variant rs144336148dbSNPEnsembl.1
Natural variantiVAR_058564544D → Y in MHS1. 1 PublicationCorresponds to variant rs113812662dbSNPEnsembl.1
Natural variantiVAR_005596552R → W in MHS1. 2 PublicationsCorresponds to variant rs193922770dbSNPEnsembl.1
Natural variantiVAR_005597614R → C in CCD and MHS1; 3-5% of the cases. 10 PublicationsCorresponds to variant rs28933996dbSNPEnsembl.1
Natural variantiVAR_005598614R → L in MHS1. 2 PublicationsCorresponds to variant rs193922772dbSNPEnsembl.1
Natural variantiVAR_0585651043R → C in MHS1. 1 PublicationCorresponds to variant rs111272095dbSNPEnsembl.1
Natural variantiVAR_0717271043R → H in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs374776563dbSNPEnsembl.1
Natural variantiVAR_0717281056D → H in MHS1. 1 Publication1
Natural variantiVAR_0717291056D → N in MHS1. 1 Publication1
Natural variantiVAR_0685111058E → K in MHS1. 1 Publication1
Natural variantiVAR_0717311127R → H in MHS1. 1 PublicationCorresponds to variant rs545579559dbSNPEnsembl.1
Natural variantiVAR_0585661352A → G in MHS1. 1 PublicationCorresponds to variant rs112105381dbSNPEnsembl.1
Natural variantiVAR_0685131393K → R in MHS1; unknown pathological significance. 2 PublicationsCorresponds to variant rs137933390dbSNPEnsembl.1
Natural variantiVAR_0717321467K → R in MHS1. 1 PublicationCorresponds to variant rs145573319dbSNPEnsembl.1
Natural variantiVAR_0717331571I → V in MHS1. 1 PublicationCorresponds to variant rs146429605dbSNPEnsembl.1
Natural variantiVAR_0055991787P → L in MHS1. 4 PublicationsCorresponds to variant rs34934920dbSNPEnsembl.1
Natural variantiVAR_0717342013K → Q in MHS1. 1 Publication1
Natural variantiVAR_0056002060G → C in MHS1. 6 PublicationsCorresponds to variant rs35364374dbSNPEnsembl.1
Natural variantiVAR_0457122117V → L in MHS1. 1 PublicationCorresponds to variant rs193922788dbSNPEnsembl.1
Natural variantiVAR_0457132129D → E in MHS1. 2 PublicationsCorresponds to variant rs117886618dbSNPEnsembl.1
Natural variantiVAR_0056012163R → C in MHS1. 3 PublicationsCorresponds to variant rs28933998dbSNPEnsembl.1
Natural variantiVAR_0056022163R → H in CCD and MHS1. 4 PublicationsCorresponds to variant rs28933999dbSNPEnsembl.1
Natural variantiVAR_0089722163R → P in MHS1. 1 PublicationCorresponds to variant rs118192163dbSNPEnsembl.1
Natural variantiVAR_0056032168V → M in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type. 9 PublicationsCorresponds to variant rs118192176dbSNPEnsembl.1
Natural variantiVAR_0056042206T → M in MHS1; induces an increase sensitivity to caffeine. 7 PublicationsCorresponds to variant rs28934000dbSNPEnsembl.1
Natural variantiVAR_0089732206T → R in MHS1. 1 PublicationCorresponds to variant rs118192177dbSNPEnsembl.1
Natural variantiVAR_0457142214V → I in MHS1. 2 PublicationsCorresponds to variant rs193922795dbSNPEnsembl.1
Natural variantiVAR_0717362248R → H in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs140152019dbSNPEnsembl.1
Natural variantiVAR_0457152280V → I in MHS1. 1 PublicationCorresponds to variant rs193922797dbSNPEnsembl.1
Natural variantiVAR_0585682336R → H in MHS1. 1 PublicationCorresponds to variant rs112563513dbSNPEnsembl.1
Natural variantiVAR_0457162342N → S in MHS1. 1 PublicationCorresponds to variant rs147213895dbSNPEnsembl.1
Natural variantiVAR_0457172344E → D in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs193922798dbSNPEnsembl.1
Natural variantiVAR_0457182346V → M in MHS1. 2 PublicationsCorresponds to variant rs193922799dbSNPEnsembl.1
Natural variantiVAR_0457192347Missing in MHS1. 1 Publication1
Natural variantiVAR_0457202348E → G in MHS1. 1 PublicationCorresponds to variant rs193922801dbSNPEnsembl.1
Natural variantiVAR_0457212350A → T in MHS1; reveals an altered calcium dependence and increased caffeine sensitivity. 3 PublicationsCorresponds to variant rs193922802dbSNPEnsembl.1
Natural variantiVAR_0717382351N → H in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs376176332dbSNPEnsembl.1
Natural variantiVAR_0717392354V → M in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0457222355R → C in MHS1. 1 Publication1
Natural variantiVAR_0717402358I → L in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs759306349dbSNPEnsembl.1
Natural variantiVAR_0457232367A → T in MHS1. 2 PublicationsCorresponds to variant rs146306934dbSNPEnsembl.1
Natural variantiVAR_0717412383A → Q in MHS1; requires 2 nucleotide substitutions; unknown pathological significance. 1 Publication1
Natural variantiVAR_0717422400D → G in MHS1. 1 Publication1
Natural variantiVAR_0585692404E → K in MHS1. 1 PublicationCorresponds to variant rs111364296dbSNPEnsembl.1
Natural variantiVAR_0457252428A → T in MHS1; induces an increase sensitivity to caffeine. 2 PublicationsCorresponds to variant rs193922809dbSNPEnsembl.1
Natural variantiVAR_0457262431D → N in MHS1. 2 PublicationsCorresponds to variant rs193922810dbSNPEnsembl.1
Natural variantiVAR_0056052434G → R in MHS1. 8 PublicationsCorresponds to variant rs121918593dbSNPEnsembl.1
Natural variantiVAR_0056062435R → H in CCD and MHS1. 3 PublicationsCorresponds to variant rs28933396dbSNPEnsembl.1
Natural variantiVAR_0089742435R → L in MHS1. 3 PublicationsCorresponds to variant rs28933396dbSNPEnsembl.1
Natural variantiVAR_0457272437A → V in MHS1. 1 PublicationCorresponds to variant rs193922812dbSNPEnsembl.1
Natural variantiVAR_0457282452R → W in MHS1. 3 PublicationsCorresponds to variant rs118192124dbSNPEnsembl.1
Natural variantiVAR_0089752454R → C in MHS1; induces an increase sensitivity to caffeine. 3 PublicationsCorresponds to variant rs193922816dbSNPEnsembl.1
Natural variantiVAR_0089762454R → H in CCD and MHS1; severe form. 8 PublicationsCorresponds to variant rs118192122dbSNPEnsembl.1
Natural variantiVAR_0089772458R → C in MHS1. 3 PublicationsCorresponds to variant rs28933397dbSNPEnsembl.1
Natural variantiVAR_0089782458R → H in MHS1. 2 PublicationsCorresponds to variant rs121918594dbSNPEnsembl.1
Natural variantiVAR_0753992508R → C in MHS1; increases sensitivity to caffeine and 4-chloro-m-cresol. 2 PublicationsCorresponds to variant rs118192178dbSNPEnsembl.1
Natural variantiVAR_0717432593R → G in MHS1. 1 Publication1
Natural variantiVAR_0717442627V → M in MHS1. 1 Publication1
Natural variantiVAR_0457292676R → W in MHS1; located on the same allele as S-2787. 3 PublicationsCorresponds to variant rs28934001dbSNPEnsembl.1
Natural variantiVAR_0585712730D → G in MHS1. 1 PublicationCorresponds to variant rs112196644dbSNPEnsembl.1
Natural variantiVAR_0457302787T → S in MHS1; located on the same allele as W-2676. 3 PublicationsCorresponds to variant rs35180584dbSNPEnsembl.1
Natural variantiVAR_0585722880E → K in MHS1. 1 PublicationCorresponds to variant rs112772310dbSNPEnsembl.1
Natural variantiVAR_0585733217S → P in MHS1. 1 PublicationCorresponds to variant rs113422327dbSNPEnsembl.1
Natural variantiVAR_0585743290E → K in MHS1. 1 PublicationCorresponds to variant rs112151058dbSNPEnsembl.1
Natural variantiVAR_0717483410P → Q in MHS1. 1 Publication1
Natural variantiVAR_0717493501D → Y in MHS1. 1 PublicationCorresponds to variant rs763259167dbSNPEnsembl.1
Natural variantiVAR_0717503711T → R in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs375915752dbSNPEnsembl.1
Natural variantiVAR_0585763772R → W in MHS1. 1 PublicationCorresponds to variant rs763112609dbSNPEnsembl.1
Natural variantiVAR_0585773806G → R in MHS1. 1 PublicationCorresponds to variant rs111565359dbSNPEnsembl.1
Natural variantiVAR_0457353916I → M in MHS1. 2 PublicationsCorresponds to variant rs193922840dbSNPEnsembl.1
Natural variantiVAR_0685183933Y → C in CCD and MHS1. 2 PublicationsCorresponds to variant rs147136339dbSNPEnsembl.1
Natural variantiVAR_0457364136R → S in MHS1. 1 PublicationCorresponds to variant rs193922849dbSNPEnsembl.1
Natural variantiVAR_0717514178G → V in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0717524230M → R in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0457384234V → L in MHS1. 2 PublicationsCorresponds to variant rs193922852dbSNPEnsembl.1
Natural variantiVAR_0585784501P → L in MHS1. 1 PublicationCorresponds to variant rs73933023dbSNPEnsembl.1
Natural variantiVAR_0457474684F → S in MHS1. 1 PublicationCorresponds to variant rs193922864dbSNPEnsembl.1
Natural variantiVAR_0457494737R → Q in MHS1. 1 PublicationCorresponds to variant rs193922868dbSNPEnsembl.1
Natural variantiVAR_0457504737R → W in MHS1; unknown pathological significance; slightly increases Ca(2+) release in response to 4-chloro-m-cresol. 3 PublicationsCorresponds to variant rs193922867dbSNPEnsembl.1
Natural variantiVAR_0457544824L → P in MHS1. 2 PublicationsCorresponds to variant rs193922874dbSNPEnsembl.1
Natural variantiVAR_0457564826T → I in MHS1. 2 PublicationsCorresponds to variant rs121918595dbSNPEnsembl.1
Natural variantiVAR_0717534837Q → E in MHS1; unknown pathological significance. 1 Publication1
Natural variantiVAR_0457574838L → V in MHS1. 3 PublicationsCorresponds to variant rs193922878dbSNPEnsembl.1
Natural variantiVAR_0457604849V → I in MHS1 and CCD; autosomal recessive form. 4 PublicationsCorresponds to variant rs118192168dbSNPEnsembl.1
Natural variantiVAR_0457634861R → H in CCD and MHS1; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR. 8 PublicationsCorresponds to variant rs63749869dbSNPEnsembl.1
Natural variantiVAR_0457664876K → R in MHS1. 2 PublicationsCorresponds to variant rs113210953dbSNPEnsembl.1
Natural variantiVAR_0717554906A → G in MHS1; unknown pathological significance. 1 PublicationCorresponds to variant rs118192153dbSNPEnsembl.1
Natural variantiVAR_0585794938I → T in MHS1. 1 PublicationCorresponds to variant rs111657878dbSNPEnsembl.1
Natural variantiVAR_0457794939D → E in MHS1. 2 PublicationsCorresponds to variant rs193922895dbSNPEnsembl.1
Natural variantiVAR_0457814942G → V in MHS1. 1 PublicationCorresponds to variant rs193922896dbSNPEnsembl.1
Natural variantiVAR_0457824973P → L in MHS1. 3 PublicationsCorresponds to variant rs146876145dbSNPEnsembl.1
Central core disease of muscle (CCD)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques.
See also OMIM:117000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04569413L → V in CCD; autosomal recessive form. 1 Publication1
Natural variantiVAR_04569544R → C in CCD and MHS1. 1 PublicationCorresponds to variant rs193922748dbSNPEnsembl.1
Natural variantiVAR_045696160E → G in CCD. 2 PublicationsCorresponds to variant rs193922752dbSNPEnsembl.1
Natural variantiVAR_005590163R → C in CCD and MHS1; 2-3% of the cases. 8 PublicationsCorresponds to variant rs118192161dbSNPEnsembl.1
Natural variantiVAR_045702215G → E in CCD; autosomal recessive form. 1 PublicationCorresponds to variant rs118192115dbSNPEnsembl.1
Natural variantiVAR_005593403I → M in CCD and MHS1. 2 PublicationsCorresponds to variant rs118192116dbSNPEnsembl.1
Natural variantiVAR_005595522Y → S in CCD and MHS1. 2 PublicationsCorresponds to variant rs118192162dbSNPEnsembl.1
Natural variantiVAR_005597614R → C in CCD and MHS1; 3-5% of the cases. 10 PublicationsCorresponds to variant rs28933996dbSNPEnsembl.1
Natural variantiVAR_071726975R → W in CCD; unknown pathological significance. 1 PublicationCorresponds to variant rs371278145dbSNPEnsembl.1
Natural variantiVAR_0457091704G → S in CCD; autosomal recessive form. 1 PublicationCorresponds to variant rs193922779dbSNPEnsembl.1
Natural variantiVAR_0056022163R → H in CCD and MHS1. 4 PublicationsCorresponds to variant rs28933999dbSNPEnsembl.1
Natural variantiVAR_0056032168V → M in CCD and MHS1; no difference in the thapsigargin-sensitive calcium stores of cells carrying this mutation and the wild-type. 9 PublicationsCorresponds to variant rs118192176dbSNPEnsembl.1
Natural variantiVAR_0685152204H → Q in CCD. 1 PublicationCorresponds to variant rs141646642dbSNPEnsembl.1
Natural variantiVAR_0457242421A → P in CCD; autosomal recessive form. 1 PublicationCorresponds to variant rs193922808dbSNPEnsembl.1
Natural variantiVAR_0329152423M → K in MMDO and CCD; autosomal recessive form. 2 PublicationsCorresponds to variant rs118192174dbSNPEnsembl.1
Natural variantiVAR_0056062435R → H in CCD and MHS1. 3 PublicationsCorresponds to variant rs28933396dbSNPEnsembl.1
Natural variantiVAR_0089762454R → H in CCD and MHS1; severe form. 8 PublicationsCorresponds to variant rs118192122dbSNPEnsembl.1
Natural variantiVAR_0685162508R → G in CCD; increases sensitivity to caffeine and 4-chloro-m-cresol. 2 PublicationsCorresponds to variant rs118192178dbSNPEnsembl.1
Natural variantiVAR_0765682963L → P in CCD. 1 PublicationCorresponds to variant rs756870293dbSNPEnsembl.1
Natural variantiVAR_0717463238E → G in CCD; unknown pathological significance. 1 Publication