Table 2.
Affected RyR1 domains and changes of protein property (based on the updated structure of RyR1 in rabbit, 19).
| Pt | Protein human/rabbit | Region of RyR1 | Change of protein charges | Change of protein hydrophilic properties | Functional unit |
|---|---|---|---|---|---|
| 1 | p. Lys4866Gln /Lys4865 | Pore | Positive to neutral | Unchanged | CAC |
| 2 | p. Glu2371Lys /Glu2371 | Bsol | Negative to positive | Unchanged | CS |
| 3* | p. Arg4893Gln /Arg4892 | Pore | positive to neutral | Unchanged | CAC |
| 4* | P. Arg4914Thr/Arg4913 | Pore | Positive to neutral | Unchanged | CAC |
| 5 | p. Asp4816Gly/Asp4815 | pVSD | Negative to neutral | Unchanged | CAC |
| 6 | p. Arg4861His /Arg4860 | Pore | Unchanged | Unchanged | CAC |
| 7 | p. Tyr4884His/Tyr4883 | Pore | Neutral to positive | Unchanged | CAC |
| 8* | p. Gly4907Ser/Gly4906 | Pore | Unchanged | Unchanged | CAC |
| 9 | p. Ile4898Thr/Ile4897 | Pore | Unchanged | Hydrophobic to hydrophilic | CAC |
| 10 | p. Arg4861Cys/Arg4860 | Pore | Positive to neutral | Unchanged | CAC |
| 11* | p. Glu4635Gly/Glu4634 | pVSD | Negative to neutral | Unchanged | CAC |
| 12* | p. Tyr4864Ser/Tyr4863 | Pore | Unchanged | Unchanged | CAC |
| 13* | p. Thr4637Ala/Thr4636 | pVSD | Unchanged | Hydrophilic to Hydrophobic | CAC |
| 14 | p. Phe4808Asn/Phe4807 | pVSD | Unchanged | Hydrophobic to hydrophilic | CAC |
| 15 | p. Gly4638Asp/Gly4637 | pVSD | Neutral to negative | Unchanged | CAC |
| 16 | p. Arg4861His/Arg4860 | Pore | Unchanged | Unchanged | CAC |
| 17 * | p. Arg4893Gln/Arg4892 | Pore | Positive to neutral | Unchanged | CAC |
| 18* | p. Phe4808Asn/ Phe4807 | pVSD | Unchanged | Hydrophobic to hydrophilic | CAC |
| 19 | p. His4651Pro/His4650 | pVSD | Positive to neutral | Hydrophilic to hydrophobic | CAC |
| 20 | p. Ile4937Met/Ile4936 | Pore | Unchanged | Unchanged, | CAC |
| 21 | p. Arg4861Cys/Arg4860 | Pore | Positive to neutral | Unchanged | CAC |
| 22 | p. Val1294Phe/Val1295 | SPRY3 | Unchanged | Unchanged | CS |
| p. Arg4825Cys/Arg4824 | Pore | Positive to neutral | Unchanged | CAC | |
| 23* | p. Arg220Cys/Arg221 | NTD-B | Positive to neutral | Unchanged | CS |
| p. Met1572Thr/Met1573 | SPRY3 | Unchanged | Hydrophobic to hydrophilic | CS | |
| 24 | p. Ser1485Asn/Ser1486 | SPRY3 | Unchanged | Unchanged | CS |
| p. Gly1165Asp/Gly1166 | SPRY2 | Neutral to negative | Unchanged | CS | |
| 25 | p. Arg682Gly/Arg683 | SPRY1 | Positive to neutral | Unchanged | CS |
| p. Val2275Met/Val2275 | Bsol | Unchanged | Unchanged | CS | |
| 26 | p. Arg4179His/Arg4180 | TaF | Unchanged | Unchanged | CAC |
| p. Ile559AsnfsTer11/Ile560 | Nsol | Unchanged | Hydrophobic to hydrophilic | CS | |
| 27 | p. Glu1175Lys/Glu1176 | SPRY2 | Negative to positive | Unchanged | CS |
| p. Gln2444Ter/Gln2444 | Bsol | Unknown | Unknown | CS | |
| 28 | p. Thr4882Met/Thr4881 | Pore | Unchanged | Hydrophilic to hydrophobic | CAC |
| p. Leu931Pro/Leu932 | RY1&2 | Unchanged | Unchanged | CS | |
| 29 | p. Arg3577Gly/Arg3576 | Bsol | Positive to neutral | Unchanged | CS |
| p. Arg4564Gln/Arg4563 | pVSD | Positive to neutral, | Unchanged | CAC | |
| 30 | p. Arg2241Ter/Arg2241 | Bsol | Unknown | Unknown | CS |
| p. Pro3208Leu/Pro3208 | Bsol | Unchanged | Unchanged | CS | |
| 31 | p. Ala4247_Ile4250del/ | TaF | Unchanged | Unchanged | CAC |
| Ala4248_Ile4251 | |||||
| p. Arg280Gln/Arg281 | NTD-B | Positive to neutral | Unchanged | CS | |
| 32* | splicing (unassigned) | Bsol | Unknown | Unknown | CS |
| p. Gly3191Arg/Gly3191 | Bsol | Neutral to positive | Unchanged | CS | |
| 33 | p. Thr4980Met/Thr4979 | CTD | Unchanged | Hydrophilic to hydrophobic | CAC |
| p. Gln4108His/Gln4109 | EF1&2 | Neutral to positive | Unchanged | CAC | |
| p. Pro4588Ser/Pro4587 | pVSD | Unchanged | Hydrophobic to hydrophilic | CAC |
Pt, patient;
*
, positive family history; CS, cytosolic shell; CAC, channel and activation core.