Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30382 | 91369;91370;91371 | chr2:178551756;178551755;178551754 | chr2:179416483;179416482;179416481 |
| N2AB | 28741 | 86446;86447;86448 | chr2:178551756;178551755;178551754 | chr2:179416483;179416482;179416481 |
| N2A | 27814 | 83665;83666;83667 | chr2:178551756;178551755;178551754 | chr2:179416483;179416482;179416481 |
| N2B | 21317 | 64174;64175;64176 | chr2:178551756;178551755;178551754 | chr2:179416483;179416482;179416481 |
| Novex-1 | 21442 | 64549;64550;64551 | chr2:178551756;178551755;178551754 | chr2:179416483;179416482;179416481 |
| Novex-2 | 21509 | 64750;64751;64752 | chr2:178551756;178551755;178551754 | chr2:179416483;179416482;179416481 |
| 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/G | None | None | 0.994 | N | 0.597 | 0.321 | 0.41958645093 | gnomAD-4.0.0 | 2.40085E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62524E-06 | 0 | 0 |
| R/I | rs1699529751  |
None | 0.999 | N | 0.733 | 0.316 | 0.469000238065 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/I | rs1699529751 |
None | 0.999 | N | 0.733 | 0.316 | 0.469000238065 | gnomAD-4.0.0 | 2.02989E-06 | None | None | None | None | N | None | 1.74734E-05 | 6.15233E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs771142882 |
-1.67 | 0.989 | N | 0.585 | 0.31 | 0.258779203287 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs771142882 |
-1.67 | 0.989 | N | 0.585 | 0.31 | 0.258779203287 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 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 | 0.4435 | ambiguous | 0.4598 | ambiguous | -0.802 | Destabilizing | 0.992 | D | 0.583 | neutral | None | None | None | None | N |
| R/C | 0.1501 | likely_benign | 0.1599 | benign | -0.918 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| R/D | 0.721 | likely_pathogenic | 0.7338 | pathogenic | -0.399 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/E | 0.4089 | ambiguous | 0.4291 | ambiguous | -0.231 | Destabilizing | 0.992 | D | 0.557 | neutral | None | None | None | None | N |
| R/F | 0.5707 | likely_pathogenic | 0.5986 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| R/G | 0.2426 | likely_benign | 0.2554 | benign | -1.108 | Destabilizing | 0.994 | D | 0.597 | neutral | N | 0.472428287 | None | None | N |
| R/H | 0.1292 | likely_benign | 0.1315 | benign | -1.495 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| R/I | 0.349 | ambiguous | 0.3739 | ambiguous | 0.028 | Stabilizing | 0.999 | D | 0.733 | prob.delet. | N | 0.501469122 | None | None | N |
| R/K | 0.0845 | likely_benign | 0.0823 | benign | -0.57 | Destabilizing | 0.543 | D | 0.347 | neutral | N | 0.44076738 | None | None | N |
| R/L | 0.2354 | likely_benign | 0.2547 | benign | 0.028 | Stabilizing | 0.996 | D | 0.597 | neutral | None | None | None | None | N |
| R/M | 0.2546 | likely_benign | 0.2667 | benign | -0.571 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| R/N | 0.529 | ambiguous | 0.5548 | ambiguous | -0.609 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| R/P | 0.499 | ambiguous | 0.4992 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/Q | 0.1023 | likely_benign | 0.1019 | benign | -0.553 | Destabilizing | 0.998 | D | 0.58 | neutral | None | None | None | None | N |
| R/S | 0.5195 | ambiguous | 0.5337 | ambiguous | -1.184 | Destabilizing | 0.989 | D | 0.585 | neutral | N | 0.486038309 | None | None | N |
| R/T | 0.2294 | likely_benign | 0.2315 | benign | -0.817 | Destabilizing | 0.998 | D | 0.615 | neutral | N | 0.375038246 | None | None | N |
| R/V | 0.4144 | ambiguous | 0.4333 | ambiguous | -0.23 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/W | 0.2163 | likely_benign | 0.2293 | benign | -0.356 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/Y | 0.4023 | ambiguous | 0.4346 | ambiguous | -0.084 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | 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.