Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15697 | 47314;47315;47316 | chr2:178618369;178618368;178618367 | chr2:179483096;179483095;179483094 |
| N2AB | 14056 | 42391;42392;42393 | chr2:178618369;178618368;178618367 | chr2:179483096;179483095;179483094 |
| N2A | 13129 | 39610;39611;39612 | chr2:178618369;178618368;178618367 | chr2:179483096;179483095;179483094 |
| N2B | 6632 | 20119;20120;20121 | chr2:178618369;178618368;178618367 | chr2:179483096;179483095;179483094 |
| Novex-1 | 6757 | 20494;20495;20496 | chr2:178618369;178618368;178618367 | chr2:179483096;179483095;179483094 |
| Novex-2 | 6824 | 20695;20696;20697 | chr2:178618369;178618368;178618367 | chr2:179483096;179483095;179483094 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs780334981  |
-1.669 | 1.0 | D | 0.909 | 0.459 | 0.528959857459 | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 5.19E-05 | None | 9.81E-05 | None | 0 | 3.14E-05 | 0 |
| R/C | rs780334981 |
-1.669 | 1.0 | D | 0.909 | 0.459 | 0.528959857459 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.83E-05 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| R/C | rs780334981 |
-1.669 | 1.0 | D | 0.909 | 0.459 | 0.528959857459 | gnomAD-4.0.0 | 5.58195E-05 | None | None | None | None | N | None | 4.01059E-05 | 6.68315E-05 | None | 0 | 2.24085E-05 | None | 0 | 0 | 6.44557E-05 | 5.49137E-05 | 1.60303E-05 |
| R/G | None | None | 1.0 | D | 0.777 | 0.477 | 0.560529172091 | gnomAD-4.0.0 | 6.84691E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99915E-07 | 0 | 0 |
| R/H | rs757663389 |
-2.32 | 1.0 | D | 0.764 | 0.581 | 0.460703734027 | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | N | None | 8.28E-05 | 0 | None | 0 | 2.59363E-04 | None | 0 | None | 0 | 2.35E-05 | 0 |
| R/H | rs757663389 |
-2.32 | 1.0 | D | 0.764 | 0.581 | 0.460703734027 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 1.95084E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | rs757663389 |
-2.32 | 1.0 | D | 0.764 | 0.581 | 0.460703734027 | gnomAD-4.0.0 | 2.17067E-05 | None | None | None | None | N | None | 6.68253E-05 | 0 | None | 0 | 3.58343E-04 | None | 0 | 0 | 1.01774E-05 | 2.19616E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9834 | likely_pathogenic | 0.9739 | pathogenic | -2.167 | Highly Destabilizing | 0.999 | D | 0.534 | neutral | None | None | None | None | N |
| R/C | 0.59 | likely_pathogenic | 0.6474 | pathogenic | -1.941 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.526533596 | None | None | N |
| R/D | 0.999 | likely_pathogenic | 0.9978 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| R/E | 0.9788 | likely_pathogenic | 0.9667 | pathogenic | -0.815 | Destabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | N |
| R/F | 0.9896 | likely_pathogenic | 0.9875 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| R/G | 0.9745 | likely_pathogenic | 0.9663 | pathogenic | -2.503 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.655441231 | None | None | N |
| R/H | 0.6985 | likely_pathogenic | 0.7022 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.644021529 | None | None | N |
| R/I | 0.9797 | likely_pathogenic | 0.9653 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| R/K | 0.3532 | ambiguous | 0.3778 | ambiguous | -1.346 | Destabilizing | 0.998 | D | 0.462 | neutral | None | None | None | None | N |
| R/L | 0.9359 | likely_pathogenic | 0.9171 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.622585889 | None | None | N |
| R/M | 0.9446 | likely_pathogenic | 0.9366 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| R/N | 0.9942 | likely_pathogenic | 0.9909 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9991 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.729987721 | None | None | N |
| R/Q | 0.453 | ambiguous | 0.4589 | ambiguous | -1.2 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| R/S | 0.9928 | likely_pathogenic | 0.9884 | pathogenic | -2.264 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.53594285 | None | None | N |
| R/T | 0.9865 | likely_pathogenic | 0.9771 | pathogenic | -1.831 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/V | 0.9769 | likely_pathogenic | 0.9642 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| R/W | 0.9075 | likely_pathogenic | 0.894 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| R/Y | 0.9652 | likely_pathogenic | 0.9615 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.