Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
| N2AB | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
| N2A | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
| N2B | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
| Novex-1 | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
| Novex-2 | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
| Novex-3 | 85 | 478;479;480 | chr2:178802180;178802179;178802178 | chr2:179666907;179666906;179666905 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs758092470  |
-0.351 | 1.0 | N | 0.679 | 0.468 | 0.442261297928 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | 0.476(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| G/E | rs758092470 |
-0.351 | 1.0 | N | 0.679 | 0.468 | 0.442261297928 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | 0.476(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 1.88168E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1684 | likely_benign | 0.1301 | benign | -0.278 | Destabilizing | 0.999 | D | 0.502 | neutral | N | 0.407202419 | None | -0.161(TCAP) | I |
| G/C | 0.6467 | likely_pathogenic | 0.529 | ambiguous | -0.961 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | 0.657(TCAP) | I |
| G/D | 0.333 | likely_benign | 0.2317 | benign | -0.617 | Destabilizing | 1.0 | D | 0.559 | neutral | None | None | None | 0.508(TCAP) | I |
| G/E | 0.3117 | likely_benign | 0.2101 | benign | -0.775 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.377464558 | None | 0.476(TCAP) | I |
| G/F | 0.768 | likely_pathogenic | 0.6542 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | 0.827(TCAP) | I |
| G/H | 0.5635 | ambiguous | 0.4268 | ambiguous | -0.367 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | 0.878(TCAP) | I |
| G/I | 0.3888 | ambiguous | 0.2705 | benign | -0.541 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | 0.072(TCAP) | I |
| G/K | 0.5437 | ambiguous | 0.3999 | ambiguous | -0.672 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | 0.419(TCAP) | I |
| G/L | 0.5899 | likely_pathogenic | 0.4473 | ambiguous | -0.541 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | 0.072(TCAP) | I |
| G/M | 0.7103 | likely_pathogenic | 0.5655 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | 0.432(TCAP) | I |
| G/N | 0.4496 | ambiguous | 0.3199 | benign | -0.376 | Destabilizing | 1.0 | D | 0.565 | neutral | None | None | None | 0.362(TCAP) | I |
| G/P | 0.8033 | likely_pathogenic | 0.7226 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | 0.0(TCAP) | I |
| G/Q | 0.4273 | ambiguous | 0.3106 | benign | -0.644 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | 0.459(TCAP) | I |
| G/R | 0.3561 | ambiguous | 0.2603 | benign | -0.255 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.436877981 | None | 0.006(TCAP) | I |
| G/S | 0.1151 | likely_benign | 0.0906 | benign | -0.513 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | 0.33(TCAP) | I |
| G/T | 0.2549 | likely_benign | 0.1788 | benign | -0.609 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | 0.358(TCAP) | I |
| G/V | 0.2868 | likely_benign | 0.2012 | benign | -0.429 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.463289778 | None | 0.0(TCAP) | I |
| G/W | 0.6806 | likely_pathogenic | 0.5962 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | 0.971(TCAP) | I |
| G/Y | 0.6972 | likely_pathogenic | 0.5709 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | 0.942(TCAP) | I |
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.