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Table 1 Genetic details of RYR1-affected individuals

From: Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

ID/Family Nucleotide change Amino acid change Family history Exon/Intro Affected domain Variant classificationa References
1/1 c.212C > A p.Ser71Tyr No E 3 NTD-A Pathogenic [54, 55]
c.6847A > C p.Asn2283His E 42 BSol Pathogenic [54]
2/2 c.467G > A p.Arg156Lys No E 6 NTD-A Pathogenic [55, 56]
3/3 c.487C > T p.Arg163Cys AD E 6 NTD-A Pathogenic [57, 58]
4/3 c.487C > T p.Arg163Cys AD E 6 NTD-A Pathogenic [57, 58]
5/3 c.487C > T p.Arg163Cys AD E 6 NTD-A Pathogenic [57, 58]
6/4 c.487C > T p.Arg163Cys AD E 6 NTD-A Pathogenic [57, 58]
7/5 c.1021G > A p.Gly341Arg AR E 11 NTD-B Pathogenic [59, 60]
c.1021G > A p.Gly341Arg E 11 NTD-B Pathogenic [59, 60]
8/6 c.1209C > G p.Ile403Met No E 12 NTD-B Pathogenic [61]
9/7 c.1250 T > C p.Leu417Pro No E 13 NTD-C Likely pathogenic [62]
10/8 c.1840C > T p.Arg614Cys AD E 17 NTD-C Pathogenic [63, 64]
11/9 c.3301G > A p.Val1101Met No E 25 SPRY2/SPRY3 Likely pathogenic [65]
c.14473C > T p.Arg4825Cys E 100 Pore Pathogenic [66]
12/10 c.4711A > G p.Ile1571Val No E 33 SPRY2/SPRY3 Likely benign [62, 67]
c.7373G > A p.Arg2458His E 46 BSol Pathogenic [68]
c.10097G > A p.Arg3366His E 67 BSol Likely pathogenic [67]
c.10259 + 7G > A p.( =) I 67 BSol Benign dbSNP: rs143752962
c.11798A > G p.Tyr3933Cys E 86 CSol Pathogenic [67, 69]
13/11 c.4711A > G p.Ile1571Val No E 33 SPRY2/SPRY3 Likely benign [62, 67]
c.10097G > A p.Arg3366His E 67 BSol Likely pathogenic [67]
c.11708G > A p.Arg3903Gln E 85 CSol Pathogenic [55]
c.11798A > G p.Tyr3933Cys E 85 CSol Pathogenic [67, 69]
14/12 c.4816C > T p.Arg1606Cys No E 33 SPRY2/SPRY3 Pathogenic [70]
15/13 c.5510A > C p.Gln1837Pro AD E 34 JSol Pathogenic This paper
16/14 c.6488G > A p.Arg2163His No E 39 BSol Pathogenic [57]
17/15 c.6502G > A p.Val2168Met AR E 39 BSol Pathogenic [60]
c.7372C > T p.Arg2458Cys E 46 BSol Pathogenic [68]
18/16 c.7025A > G p.Asn2342Ser No E 43 BSol Pathogenic [71]
c.14659C > T p.His4887Tyr E 102 Pore Pathogenic [72]
19/17 c.7048G > A p.Ala2350Thr AD E 44 BSol Pathogenic [73]
20/17 c.7048G > A p.Ala2350Thr AD E 44 BSol Pathogenic [73]
21/18 c.7085A > G p.Glu2362Gly AD E 44 BSol Pathogenic [55]
c.13513G > C p.Asp4505His E 92 pVSD Pathogenic [74, 75]
22/19 c.7304G > A p.Arg2435His AD E 45 BSol Pathogenic [60]
23/20 c.7523G > A p.Arg2508His No E 47 BSol Pathogenic [20, 55]
24/21 c.9293G > T p.Ser3098Ile No E 63 BSol Pathogenic This paper
c.14645C > T p.Thr4882Met E 101 Pore Pathogenic [76]
25/22 c.10097G > A p.Arg3366His AD E 67 BSol Likely pathogenic [67]
c.11798A > G p.Tyr3933Cys E 86 CSol Pathogenic [67, 69]
26/23 c.11708G > A p.Arg3903Gln No E 85 CSol Pathogenic [55]
27/24 c.11708G > A p.Arg3903Gln AR E 85 CSol Pathogenic [55]
c.11708G > A p.Arg3903Gln E 85 CSol Pathogenic [55]
28/24 c.11708G > A p.Arg3903Gln AR E 85 CSol Pathogenic [55]
c.11708G > A p.Arg3903Gln E 85 CSol Pathogenic [55]
29/25 c.13724A > C p.Asn4575Thr No E 94 pVSD Pathogenic [77]
30/26 c.13910C > T p.Thr4637Ile No E 95 pVSD Pathogenic [78]
31/27 c.14209C > T p.Arg4737Trp AD E 98 pVSD Pathogenic [79, 80]
32/27 c.14209C > T p.Arg4737Trp AD E 98 pVSD Pathogenic [79, 80]
33/28 c.14582G > A p.Arg4861His No E 101 Pore Pathogenic [66, 78]
34/29 c.14680G > C p.Ala4894Pro AD E 102 Pore Pathogenic [81]
35/29 c.14680G > C p.Ala4894Pro AD E 102 Pore Pathogenic [81]
36/29 c.14680G > C p.Ala4894Pro AD E 102 Pore Pathogenic [81]
37/29 c.14680G > C p.Ala4894Pro AD E 102 Pore Pathogenic [81]
38/30 c.14690G > A p.Gly4897Asp No E 102 Pore Pathogenic [82, 83]
39/31 c.14693 T > C p.Ile4898Thr AD E 102 Pore Pathogenic [83,84,85]
40/31 c.14693 T > C p.Ile4898Thr AD E 102 Pore Pathogenic [83,84,85]
41/32 c.14693 T > C p.Ile4898Thr AD E 102 Pore Pathogenic [83,84,85]
42/33 c.14693 T > C p.Ile4898Thr No E 102 Pore Pathogenic [83,84,85]
43/34 c.14695G > A p.Gly4899Arg AD E 102 Pore Pathogenic [85, 86]
44/35 c.14818G > A p.Ala4940Thr AD E 103 Pore Pathogenic [78]
45/36 c.14928C > G p.Phe4976Leu AR E 104 CTD Pathogenic [87]
c.14928C > G p.Phe4976Leu E 104 CTD Pathogenic [87]
46/36 c.14928C > G p.Phe4976Leu AR E 104 CTD Pathogenic [87]
c.14928C > G p.Phe4976Leu E 104 CTD Pathogenic [87]
47/37 c.472_474delGAA p.Glu158del No E 6 NTD-A Pathogenic This paper
48/38 c.1690 T > C p.Tyr564His No E 16 NTD-C Benign [85]
c.2930C > T p.Thr977Met E 24 RY1&2 Pathogenic dbSNP: rs375865052
49/39 c.3866G > A p.Arg1289Gln No E 28 SPRY2/SPRY3 Pathogenic This paper
50/40 c.3901C > T p.Arg1301Cys No E 28 SPRY2/SPRY3 Pathogenic dbSNP: rs745920741
c.5360C > T p.Pro1787Leu E 34 JSol Benign [56]
51/41 c.3935C > T p.Pro1312Leu No E 28 SPRY2/SPRY3 Benign This paper
52/42 c.4949 T > C p.Leu1650Pro No E 34 SPRY2/SPRY3 Pathogenic This paper
c.6352C > T p.Arg2118Trp E 39 JSol Pathogenic [88]
c.14918C > T p.Pro4973Leu E 104 CTD Likely pathogenic [79]
53/43 c.6178G > T p.Gly2060Cys No E 38 JSol Benign [54, 56]
c.13691G > A p.Arg4564Gln E 94 pVSD Pathogenic [7]
54/44 c.6352C > T p.Arg2118Trp AR E 39 JSol Pathogenic [88]
c.14918C > T
c.10347 + 1G > A
p.Pro4973Leu
IVS68 + 1G > A
E 104
I 68
CTD
Likely pathogenic
Pathogenic
[79]
[88]
55/45 c.6377G > A p.Arg2126Gln No E 39 JSol Pathogenic [89]
c.11813G > A p.Gly3938Asp E 86 CSol Pathogenic [89]
c.15022G > C p.Glu5008Gln E 106 CTD Pathogenic This paper
56/46 c.6617C > T p.Thr2206Met No E 40 BSol Pathogenic [60]
c.10537A > G p.Thr3513Ala E 71 BSol Pathogenic This paper
57/47 c.9145C > T p.Leu3049Phe No E 61 BSol Pathogenic This paper
58/48 c.10516C > A p.Gln3506Lys No E 71 BSol Pathogenic This paper
59/49 c.11609-2A > G IVS83-2A > G AD I 83 Uncertain significance This paper
60/49 c.11609-2A > G IVS83-2A > G AD I 83 Uncertain significance This paper
61/50 c.13952A > G p.His4651Arg AD E 95 pVSD Pathogenic dbSNP: rs118192139
62/50 c.13952A > G p.His4651Arg AD E 95 pVSD Pathogenic dbSNP: rs118192139
63/51 c.14815G > T p.Asp4939Tyr AD E 103 Pore Pathogenic This paper
64/51 c.14815G > T p.Asp4939Tyr AD E 103 Pore Pathogenic This paper
65/52 c.12063insAC
c.2709_2711delCCC
p.Asp4021GlufsX4
p.His903del
AR E 88
E 22
CSol
RY1&2
Pathogenic
Pathogenic
This paper
This paper
66/53 c.7080insG p.Pro2361AlafsX2 No E 44 BSol Likely pathogenic This paper
67/54 c.14510delA p.Gln4837ArgfsX3 AD E 100 Pore Pathogenic [56]
68/54 c.14510delA p.Gln4837ArgfsX3 AD E 100 Pore Pathogenic [56]
69/55 c.4711A > G p.Ile1571Val No E 33 SPRY2/SPRY3 Likely benign [62, 67]
c.9407delT* p.Leu3136Argfs E 63 BSol Pathogenic This paper
  1. aVariant classification based on literature or bioinformatic analyses. ID: patient’s number; AR: autosomal recessive inheritance; AD: autosomal dominant inheritance; E: exon; I: Intron; NTD-A: N-terminal domain A; NTD-B: N-terminal domain B; NTD-C: N-terminal domain C; BSol: bridge solenoid; JSol: junctional solenoid; SPRY1-SPRY3: SP1a/ryanodine receptor domain; RY1&2: RyR repeats pairs; CSol: core solenoid; pVSD: pseudo voltage sensor domain; CTD: C-terminal domain