LOVD - Variant listings for RYR1

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?/? - c.?
    + c.325C>T, c.1453A>G
- r.0 p.0? RYR1_00282 - germline (inherited) Zhou 2006 RNA RT-PCR, SEQ - - MmD Marked axial weakness; ophthalmoplegia; mild scoliosis Portugal:Porto sister affected United Kingdom (Great Britain) - M isolated (sporadic), familial - - 1 - -
-/? 1 c.-108T>C
    + 99 others
g.43616202C>T r.(?) p.(=) RYR1_00039 5'UTR germline (inherited) dbSNP-rs4632259; Robinson 2006 DNA SEQ - - - - JdD - - - - unknown - - 1 - -
+/? 1 c.35_37delinsCG
    + c.7268T>A
c.34del, c.37C>G r.35_37delinscg p.Phe12Serfs*106 RYR1_00323 low expression at mRNA level germline (inherited) Monnier 2008 DNA, RNA RT-PCR, SEQ - - CCD Moderate progressive distal and proximal muscle weakness; respiratory problems; ptosis; ophthalmoparesis; joint contractures Portugal:Porto - France - F isolated (sporadic) - - 1 Normal reduced expression in WB (~51%)
+/? 1 c.38T>G - r.(?) p.(Leu13Arg) RYR1_00134 - germline (inherited) Ibarra Moreno 2005, Robinson 2006, Ibarra 2006 DNA SEQ - - MHS1;CCD Cores in muscle biopsy; abnormally enhanced CICR test JdD - Japan - F unknown - - 1 - -
-/? 1i c.45+300T>C
    + 99 others
g.43616654C>T r.(=) p.(=) RYR1_00330 - germline (inherited) dbSNP-rs919781; Robinson 2006 DNA SEQ - - - - JdD - - - - unknown - - 1 - -
+/? 2 c.51_53del 51_53delTGA r.(?) p.(Asp17del) RYR1_00254 - germline (inherited) Ibarra 2006 DNA SEQ - - MHS1 enhanced CICR test JdD - Japan - M unknown - - 1 - -
?/? 2 c.94C>T
    + c.6796G>C
- - p.(Leu32Phe) RYR1_00422 - germline (inherited) - DNA PCR, SEQ - - congenital myopathy - United States:Marshfield, WI - United States - M familial, autosomal recessive - - 1 - -
+/? 2 c.97A>G A97G r.(?) p.(Lys33Glu) RYR1_00300 Conserved residue; not in 200 normal controls de novo D'Arcy 2008 DNA SEQ - - MHS1 Facial and proximal limb weakness; bilateral ptosis; proeminant philtrum; low-set ears, and webbed neck Portugal:Porto King-Denborough syndrome ? (unknown) - F isolated (sporadic) - - 1 2,243 oliveiraj
+/? 2 c.(103T>C?) - r.(?) p.(Cys35Arg) RYR1_00027 - germline (inherited) Heytens 2007 DNA SEQ - - MHS1 - Portugal:Porto - Belgium - M isolated (sporadic) - - 1 - -
+/? 2 c.103T>C
    + c.103T>C
- r.(?) p.(Cys35Arg) RYR1_00027 - germline (inherited) Lynch (1997) DNA SEQ - - MHS1 - JdD - Italy Sicilian - unknown - - 1 - -
+/? 2 c.103T>C
    + c.103T>C
- r.(?) p.(Cys35Arg) RYR1_00027 - germline (inherited) Lynch (1997) DNA SEQ - - MHS1 - JdD - Italy Sicilian - unknown - - 1 - -
+/? 2 c.103T>C - r.(?) p.(Cys35Arg) RYR1_00027 in vitro functional study shows altered ryanodine receptor function EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) germline (inherited) European MH Group genetic testing guidelines May 2005 DNA SEQ - - in vitro - JdD - - - - unknown - - 1 - -
+/? 2 c.103T>C - r.(?) p.(Cys35Arg) RYR1_00027 - germline (inherited) Monnier (2005) DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
+/? 2 c.130C>T - r.(?) p.(Arg44Cys) RYR1_00213 - germline (inherited) Tammaro 2003 DNA SEQ - - MHS1 - JdD - Italy - - unknown - - 1 - -
+/? 2 c.131G>A - r.131g>a p.Arg44His RYR1_00076 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1 - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 2 c.131G>A - r.(?) p.(Arg44His) RYR1_00076 - germline (inherited) Galli 2006 DNA DHPLC, SEQ - - MHS1 MHS by IVCT Portugal:Porto - Italy - - familial - - 1 - -
+?/? 2 c.152C>A
    + c.677T>A
- r.(?) p.(Thr51Asn) RYR1_00309 not in 100 controls germline (inherited) Gillies 2008 DNA SEQ - - MHS1 MH episode; IVCT positive Portugal:Porto - Australia - ? unknown - - 1 - -
-/? 2i c.165+74G>C
    + 99 others
g.43623418C>G r.(=) p.(=) RYR1_00332 - germline (inherited) dbSNP-rs2304145; Robinson 2006 DNA SEQ 0.03 - - - JdD - - - - unknown - - 1 - -
-/? 2i c.270+27G>A
    + 99 others
g.43624690A>G r.(=) p.(=) RYR1_00329 - germline (inherited) dbSNP-rs3745843; Robinson 2006 DNA SEQ - - - - JdD - - - - unknown - - 1 - -
+/? 3 c.178G>A - r.178g>a p.Asp60Asn RYR1_00077 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1 - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 3 c.178G>A
    + c.10817T>C
- r.(?) p.(Asp60Asn) RYR1_00077 - germline (inherited) Wu 2006 DNA SEQ - - CCD Cores in muscle biopsy; delayed motor skills; proximal muscle weakness Portugal:Porto - Japan - F isolated (sporadic) - - 1 - -
+?/? 3 c.178G>A - r.(?) p.(Asp60Asn) RYR1_00077 - germline (inherited) - DNA PCR, SEQ - - myopathy late onset, proximal myopathy United States:Marshfield, WI - United States - F unknown - - 1 - -
+/? 3 c.190T>C
    + c.10262C>T
- r.190u>c p.Cys64Arg RYR1_00395 not in 200 control chromosomes germline (inherited) Kraeva 2011 DNA, RNA PCR, RT-PCR, SEQ 0/200 BtsCI+ MHS1 CHCT positive Canada:Toronto - Canada - M unknown - - 1 - -
+/? 3 c.212C>A - r.(?) p.(Ser71Tyr) RYR1_00265 - germline (inherited) Galli 2006 DNA SEQ, DHPLC - - MHS1 MHS by IVCT Portugal:Porto sib of patient 19 Italy - - familial - - 1 - -
+/? 3 c.212C>A - r.(?) p.(Ser71Tyr) RYR1_00265 - germline (inherited) Galli 2006 DNA SEQ, DHPLC - - MHS1 MHS by IVCT Portugal:Porto sib of patient 3 Italy - - familial - - 1 - -
+/? 3 c.212C>A
    + c.6847A>C
- r.212c>a p.Ser71Tyr RYR1_00265 - germline (inherited) Zhou 2006 RNA RT-PCR, SEQ - - MmD Marked axial weakness; feeding difficulties Portugal:Porto - - - M isolated (sporadic) - - 1 - -
+/? 3 c.212C>A
    + c.6847A>C
- r.212c>a p.Ser71Tyr RYR1_00265 - germline (inherited) Zhou 2007 RNA RT-PCR, SEQ - - CCD Predominant proximal weakness; scoliosis Portugal:Porto - - - - isolated (sporadic) - - 1 - -
+/? 4 c.325C>T
    + c.?, c.1453A>G
- r.325c>u p.Arg109Trp RYR1_00280 - germline (inherited) Jungbluth 2005; Zhou 2006 RNA RT-PCR, SEQ - - MmD Marked axial weakness; ophthalmoplegia Portugal:Porto brother affected United Kingdom (Great Britain) - F isolated (sporadic), familial - - 1 - -
+/? 4 c.325C>T
    + c.?, c.1453A>G
- r.325c>u p.Arg109Trp RYR1_00280 not in 200 controls; conserved residue; monoallelic expression in skeletal muscle (epigenetic allele silencing) germline (inherited) Jungbluth 2005; Zhou 2006; Zhou 2006b; Zhou 2007 RNA RT-PCR, SEQ - - MmD Marked axial weakness; ophthalmoplegia; mild scoliosis Portugal:Porto sister affected United Kingdom (Great Britain) - M isolated (sporadic), familial - - 1 - -
+/? 6 c.463C>A - r.(?) p.(Gln155Lys) RYR1_00117 - germline (inherited) Ibarra Moreno 2005, Robinson 2006, Ibarra 2006 DNA SEQ - - MHS1 abnormally enhanced CICR test JdD - Japan - M unknown - - 1 - -
+/? 6 c.467G>A - r.(?) p.(Arg156Lys) RYR1_00147 - germline (inherited) Tegazzin 2005, Robinson 2006 DNA SEQ - - MHS1 - JdD - Italy - - unknown - - 1 - -
+/? 6 c.467G>A - r.(?) p.(Arg156Lys) RYR1_00147 - germline (inherited) Galli 2006 DNA DHPLC, SEQ - - MHS1 MHS by IVCT Portugal:Porto - Italy - - unknown - - 1 - -
+/? 6 c.479A>G - r.479a>g p.Glu160Gly RYR1_00078 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1 - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 6 c.479A>G - r.(?) p.(Glu160Gly) RYR1_00078 - germline (inherited) Shepherd (2004) DNA SEQ - - CCD - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 6 c.479A>G - r.(?) p.(Glu160Gly) RYR1_00078 - germline (inherited) Duarte 2011 DNA SEQ - - CCD Muscle pain and fadigue; myopathic EMG Portugal:Porto - Portugal - F unknown - - 1 Normal -
+/? 6 c.487C>T
    + c.11748T>G
- r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Monnier 2002 DNA SEQ - - MHS1 - JdD 4-generation family with 6 affecteds France - F familial - - 1 - -
+/? 6 c.487C>T - r.487c>u p.Arg163Cys RYR1_00026 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1;CCD - JdD - - European - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Barone (1999) DNA SEQ - - MHS1;CCD - JdD - - European - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) germline (inherited) European MH Group genetic testing guidelines May 2005 DNA SEQ - - in vitro - JdD - - - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Fagerlund (1994), (OMIM 0004) DNA SEQ - - CCD;MHS1 - JdD - Denmark - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Fiege (2002) DNA SEQ - - MHS1;CCD - JdD - - European - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Fletcher (1995) DNA SEQ - - MHS1;CCD - JdD - - - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Monnier (2005) DNA SEQ - - MHS1;CCD - JdD - France - - unknown - - 1 - -
-?/? 6 c.487C>T - r.487c>u p.Arg163Cys RYR1_00026 - germline (inherited) O'Brien 1995, (OMIM 0004) DNA SEQ - - MHS1 MHS by IVCT JdD 5-generation family, 5 affecteds, 2 carriers / 3 non-carriers Australia - - familial - - 2 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Quane (1993), (OMIM 0004) DNA SEQ - - CCD;MHS1 - JdD some family members have MHS and CCD - - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Quane (1994a) DNA SEQ - - MHS1;CCD - JdD - - European - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Robinson (2002) DNA SEQ - - MHS1;CCD - JdD - - European - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Ruffert 2002; Rueffert 2002 DNA SEQ - - MHS1 - JdD 2 affected families; 6 individuals with mutation: 5 MH positive individuals (in vitro contracture test), 1 not tested Germany - - familial - - 6 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Sambuughin (2001) DNA SEQ - - MHS1;CCD - JdD - United States - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Sambuughin (2005) DNA SEQ - - MHS1;CCD - JdD - United States - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Sei (2004) DNA SEQ - - MHS1;CCD - JdD - United States - - unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Tobin (2001), (OMIM 0004) DNA SEQ - - MHS1 - JdD affected male, inherited from father - - M unknown - - 2 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) several publications DNA SEQ - - CCD;MHS1 - JdD - - - - unknown - - 19 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Ibarra Moreno 2005, Robinson 2006, Ibarra 2006 DNA SEQ - - MHS1;CCD Cores in muscle biopsy; enhanced CICR test JdD - Japan - M unknown - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Galli 2006 DNA SEQ, DHPLC - - MHS1 MHS by IVCT Portugal:Porto - Italy - - familial - - 1 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Gillies 2008 DNA SEQ - - MHS1 IVCT positive Portugal:Porto Family: 3 individuals with positive IVCT Australia - ? unknown - - 3 - -
+/? 6 c.487C>T - r.(?) p.(Arg163Cys) RYR1_00026 - germline (inherited) Gillies 2008 DNA SEQ - - MHS1 MH episode; IVCT positive Portugal:Porto Family: 6 individuals with positive IVCT Australia - ? unknown - - 6 - -
+/? 6 c.487C>T - r.487c>u p.Arg163Cys RYR1_00026 - germline (inherited) Kraeva 2011 DNA, RNA PCR, RT-PCR, SEQ - - MHS1 CHCT positive Canada:Toronto - Canada - M unknown - - 1 - -
+/? 6 c.488G>T - r.488g>u p.Arg163Leu RYR1_00079 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1 - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 6 c.488G>T - r.(?) p.(Arg163Leu) RYR1_00079 in vitro functional study shows modified channel activity; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) germline (inherited) Monnier (2005) DNA SEQ - - in vitro - JdD - - - - unknown - - 1 - -
+/? 6 c.488G>T - r.(?) p.(Arg163Leu) RYR1_00079 - germline (inherited) Monnier (2005) DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
+/? 6 c.493G>A - r.(?) p.(Gly165Arg) RYR1_00184 - germline (inherited) Monnier 2005 DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
+/? 6 c.496G>A - r.(?) p.(Asp166Asn) RYR1_00185 - germline (inherited) Monnier (2005) DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
+/? 6 c.496G>A - r.(?) p.(Asp166Asn) RYR1_00185 - germline (inherited) Ruffert 2002; Rueffert 2002 DNA SEQ - - MHS1 - JdD 1 affected family; 2 individuals with mutation are MH positive (in vitro contracture test) Germany - - familial - - 2 - -
+/? 6 c.497A>G
    + c.6488G>A
- r.(?) p.(Asp166Gly) RYR1_00118 - germline (inherited) Ibarra Moreno 2005, Robinson 2006, Ibarra 2006 DNA SEQ - - MHS1 enhanced CICR test JdD - Japan - F unknown - - 1 - -
+/? 6 c.529C>T - r.529c>u p.Arg177Cys RYR1_00080 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1 - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 6 c.529C>T - r.(?) p.(Arg177Cys) RYR1_00080 - germline (inherited) Monnier (2005) DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
+/? 6 c.529C>T - r.(?) p.(Arg177Cys) RYR1_00080 - germline (inherited) several publications DNA SEQ - - MHS1 - JdD - - - - unknown - - 6 - -
+/? 6 c.529C>T - r.(?) p.(Arg177Cys) RYR1_00080 - germline (inherited) Galli 2006 DNA SEQ, DHPLC - - MHS1 MHS by IVCT Portugal:Porto - Italy - - familial - - 1 - -
+/? 6 c.529C>T - r.(?) p.(Arg177Cys) RYR1_00080 not in 100 controls germline (inherited) Gillies 2008 DNA SEQ - - MHS1 IVCT positive Portugal:Porto Family: 2 individuals with positive IVCT Australia - ? unknown - - 2 - -
+/? 6 c.533A>T - r.(?) p.(Tyr178Phe) RYR1_00186 - germline (inherited) Monnier 2005 DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
-/? 7 c.573C>T
    + 99 others
Asp191; c.473C>T r.(?) p.(=) RYR1_00049 - germline (inherited) dbSNP-rs892054; Robinson 2006 DNA SEQ 0.05 - - - JdD - - - - unknown - - 1 - -
-/? 7 c.573C>T 473C>T (Asp191) r.(?) p.(=) RYR1_00049 - germline (inherited) Robinson 2006 DNA SEQ 0/100 - - - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
-/? 7 c.594A>G
    + 99 others
Leu198 r.(?) p.(=) RYR1_00050 - germline (inherited) dbSNP-rs2229139; Robinson 2006 DNA SEQ - - - - JdD - - - - unknown - - 1 - -
-/? 7 c.594A>G 594G>A (Leu198) r.(?) p.(=) RYR1_00050 - germline (inherited) Robinson 2006 DNA SEQ 30/100 - - - JdD - United Kingdom (Great Britain) - - unknown - - 70 - -
-/? 7 c.594A>G
    + 19 others
- r.(?) p.(=) RYR1_00050 - germline (inherited) Jeong 2008 DNA SEQ - - MHS1 - Portugal:Porto SNPs identified in Large kindred: 3 individuals with MH episode (one died); 2 individuals with myopathy. (Korea, South (Republic)) - - unknown - - 1 - -
-/? 7 c.594A>G - r.(?) p.(=) RYR1_00050 - unknown from website Emory Genetics Lab DNA SEQ - - ? - United States:Emory Lab - (United States) - - unknown - - 1 - -
?/? 7 c.625G>A
    + c.7007G>A
- r.625g>a p.Glu209Lys RYR1_00407 - germline (inherited) Kraeva 2011 DNA, RNA RT-PCR, SEQ - - MHS1 - Canada:Toronto 3-generation family with 4 MHS individuals; maternal aunt of proband did not carry either of the two mutations Canada - F familial, autosomal dominant no - 1 - -
+/? 8 c.644G>A
    + c.1840C>T
- r.(?) p.(Gly215Glu) RYR1_00029 - germline (inherited) Romero 2003 DNA SEQ - - CCD delayed motor development, ptosis, strabismus, scoliosis, amyotrophy JdD Family I (brother died at 32w of gestation) France - M unknown - - 1 - -
+/? 8 c.652G>A - r.(?) p.(Val218Ile) RYR1_00225 - germline (inherited) Ibarra Moreno 2005, Robinson 2006, Ibarra 2006 DNA SEQ - - MHS1 enhanced CICR test JdD - Japan - F unknown - - 1 - -
+/? 8 c.652G>A
    + c.12848A>T
- r.(?) p.(Val218Ile) RYR1_00225 - germline (inherited) Ibarra Moreno 2005, Robinson 2006, Ibarra 2006 DNA SEQ - - MHS1 enhanced CICR test JdD - Japan - M unknown - - 1 - -
+/? 8 c.677T>A - r.(?) p.(Met226Lys) RYR1_00138 - germline (inherited) Levano 2005, Robinson 2006 DNA SEQ - - MHS1 - JdD - Switzerland - - unknown - - 1 - -
+?/? 8 c.677T>A
    + c.152C>A
- r.(?) p.(Met226Lys) RYR1_00138 not in 100 controls germline (inherited) Gillies 2008 DNA SEQ - - MHS1 MH episode; IVCT positive Portugal:Porto - Australia - ? unknown - - 1 - -
+/? 8 c.680A>T - r.(?) p.(Asp227Val) RYR1_00187 - germline (inherited) Monnier 2005 DNA SEQ - - MHS1 - JdD - France - - unknown - - 1 - -
+/? 9 c.742G>A - r.742g>a p.Gly248Arg RYR1_00081 - germline (inherited) Robinson 2006 RNA RT-PCR, SEQ - - MHS1 - JdD - - - - unknown - - 1 - -
+/? 9 c.742G>A - r.(?) p.(Gly248Arg) RYR1_00081 in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/) germline (inherited) European MH Group genetic testing guidelines May 2005 DNA SEQ - - in vitro - JdD - - - - unknown - - 1 - -
+/? 9 c.742G>A - r.742g>a p.(Gly248Arg) RYR1_00081 - germline (inherited) Gillard (1992), (OMIM 0002) DNA SEQ - - MHS1 - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
+/? 9 c.742G>A - r.(?) p.(Gly248Arg) RYR1_00081 - germline (inherited) Robinson (2002) DNA SEQ - - MHS1 - JdD - - European - unknown - - 1 - -
+/? 9 c.742G>A - r.(?) p.(Gly248Arg) RYR1_00081 - germline (inherited) Sambuughin (2001) DNA SEQ - - MHS1 - JdD - United States - - unknown - - 1 - -
+/? 9 c.742G>A - r.(?) p.(Gly248Arg) RYR1_00081 - germline (inherited) Sei (2004) DNA SEQ - - MHS1 - JdD - United States - - unknown - - 1 - -
+/? 9 c.742G>A - r.(?) p.(Gly248Arg) RYR1_00081 - germline (inherited) several publications DNA SEQ - - MHS1 - JdD - - - - unknown - - 1 - -
+/? 9 c.742G>C - r.(?) p.(Gly248Arg) RYR1_00310 - germline (inherited) Gillies 2008 DNA SEQ - - MHS1 IVCT positive Portugal:Porto Family: 2 individuals with positive IVCT Australia - ? unknown - - 2 - -
?/? ? c.?
    + c.325C>T, c.1453A>G
- r.0 p.0? RYR1_00282 - germline (inherited) Zhou 2006 RNA RT-PCR, SEQ - - MmD Marked axial weakness; ophthalmoplegia Portugal:Porto brother affected United Kingdom (Great Britain) - F isolated (sporadic), familial - - 1 - -
-/? 10 c.873G>A Ala291 r.(?) p.(=) RYR1_00290 - germline (inherited) Robinson 2006 DNA SEQ 0/100 - - - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
-/? 10 c.873G>A
    + 99 others
Ala291 r.(?) p.(=) RYR1_00290 - germline (inherited) dbSNP-rs2229140; Robinson 2006 DNA SEQ 0.03 - - - JdD - - - - unknown - - 1 - -
+/? 10 c.947G>T - r.(?) p.(Arg316Leu) RYR1_00119 - germline (inherited) Ibarra 2006 DNA SEQ - - MHS1 abnormally enhanced CICR test JdD - Japan - M unknown - - 1 - -
+/? 11 c.982C>T C928T r.(?) p.(Arg328Trp) RYR1_00177 - germline (inherited) Loke 2003 DNA SEQ - - MHS1 - JdD - Canada - - unknown - - 1 - -
-/? 11 c.1014C>A Ile338 r.(?) p.(=) RYR1_00004 - germline (inherited) Robinson 2006 DNA SEQ 0/100 - - - JdD - United Kingdom (Great Britain) - - unknown - - 1 - -
-/? 11 c.1014C>A
    + 99 others
Ile338 r.(?) p.(=) RYR1_00004 - germline (inherited) dbSNP-rs8101510; Robinson 2006 DNA SEQ - - - - JdD - - - - unknown - - 1 - -
+/? 11 c.(1021G>A?) - r.(?) p.(Gly341Arg) RYR1_00087 - germline (inherited) Heytens 2007 DNA ? - - MHS1 - Portugal:Porto 3-generation family; variant in 4/4 MH positive individuals (in vitro contracture test) Belgium - ? familial - - 1 - -
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Legend: [ RYR1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change RYR1 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data