Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
| N2AB | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
| N2A | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
| N2B | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
| Novex-1 | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
| Novex-2 | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
| Novex-3 | 14 | 265;266;267 | chr2:178804603;178804602;178804601 | chr2:179669330;179669329;179669328 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | rs771027745  |
0.169 | 1.0 | N | 0.802 | 0.397 | 0.675737440431 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.816(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| S/I | rs771027745 |
0.169 | 1.0 | N | 0.802 | 0.397 | 0.675737440431 | gnomAD-4.0.0 | 5.47299E-06 | None | None | None | -0.816(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19472E-06 | 0 | 0 |
| S/N | rs771027745 |
None | 0.998 | N | 0.593 | 0.295 | 0.367425347029 | gnomAD-4.0.0 | 6.84124E-07 | None | None | None | -0.592(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9934E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.148 | likely_benign | 0.1492 | benign | -0.241 | Destabilizing | 0.994 | D | 0.404 | neutral | None | None | None | -0.875(TCAP) | N |
| S/C | 0.6025 | likely_pathogenic | 0.6225 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.586678832 | None | -0.424(TCAP) | N |
| S/D | 0.4487 | ambiguous | 0.4199 | ambiguous | 0.231 | Stabilizing | 1.0 | D | 0.614 | neutral | None | None | None | -2.159(TCAP) | N |
| S/E | 0.7018 | likely_pathogenic | 0.6508 | pathogenic | 0.167 | Stabilizing | 1.0 | D | 0.601 | neutral | None | None | None | -2.145(TCAP) | N |
| S/F | 0.7418 | likely_pathogenic | 0.7222 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | -0.637(TCAP) | N |
| S/G | 0.1492 | likely_benign | 0.1534 | benign | -0.379 | Destabilizing | 1.0 | D | 0.476 | neutral | N | 0.462858388 | None | -0.924(TCAP) | N |
| S/H | 0.6808 | likely_pathogenic | 0.6673 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | -0.752(TCAP) | N |
| S/I | 0.6687 | likely_pathogenic | 0.6255 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.503024132 | None | -0.816(TCAP) | N |
| S/K | 0.889 | likely_pathogenic | 0.8669 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | -1.676(TCAP) | N |
| S/L | 0.4117 | ambiguous | 0.3852 | ambiguous | -0.008 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | -0.816(TCAP) | N |
| S/M | 0.5637 | ambiguous | 0.5418 | ambiguous | -0.094 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | -0.329(TCAP) | N |
| S/N | 0.1838 | likely_benign | 0.175 | benign | -0.251 | Destabilizing | 0.998 | D | 0.593 | neutral | N | 0.43259976 | None | -0.592(TCAP) | N |
| S/P | 0.253 | likely_benign | 0.2169 | benign | -0.055 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | -0.82(TCAP) | N |
| S/Q | 0.7575 | likely_pathogenic | 0.7308 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | -0.834(TCAP) | N |
| S/R | 0.8542 | likely_pathogenic | 0.828 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.487156947 | None | -1.694(TCAP) | N |
| S/T | 0.1561 | likely_benign | 0.1543 | benign | -0.292 | Destabilizing | 0.998 | D | 0.451 | neutral | N | 0.450683222 | None | -0.856(TCAP) | N |
| S/V | 0.6029 | likely_pathogenic | 0.5781 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | -0.82(TCAP) | N |
| S/W | 0.7904 | likely_pathogenic | 0.7625 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | -0.941(TCAP) | N |
| S/Y | 0.5853 | likely_pathogenic | 0.5453 | ambiguous | -0.532 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -0.399(TCAP) | 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.