Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15836 | 47731;47732;47733 | chr2:178617845;178617844;178617843 | chr2:179482572;179482571;179482570 |
| N2AB | 14195 | 42808;42809;42810 | chr2:178617845;178617844;178617843 | chr2:179482572;179482571;179482570 |
| N2A | 13268 | 40027;40028;40029 | chr2:178617845;178617844;178617843 | chr2:179482572;179482571;179482570 |
| N2B | 6771 | 20536;20537;20538 | chr2:178617845;178617844;178617843 | chr2:179482572;179482571;179482570 |
| Novex-1 | 6896 | 20911;20912;20913 | chr2:178617845;178617844;178617843 | chr2:179482572;179482571;179482570 |
| Novex-2 | 6963 | 21112;21113;21114 | chr2:178617845;178617844;178617843 | chr2:179482572;179482571;179482570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1309017744  |
-0.172 | 0.001 | N | 0.17 | 0.219 | 0.0986583533028 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| Q/R | rs1309017744 |
-0.172 | 0.001 | N | 0.17 | 0.219 | 0.0986583533028 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/R | rs1309017744 |
-0.172 | 0.001 | N | 0.17 | 0.219 | 0.0986583533028 | gnomAD-4.0.0 | 7.44171E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32921E-06 | 0 | 1.60308E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3032 | likely_benign | 0.277 | benign | -0.151 | Destabilizing | 0.207 | N | 0.439 | neutral | None | None | None | None | I |
| Q/C | 0.7256 | likely_pathogenic | 0.6383 | pathogenic | -0.317 | Destabilizing | 0.981 | D | 0.646 | neutral | None | None | None | None | I |
| Q/D | 0.7929 | likely_pathogenic | 0.7737 | pathogenic | -2.004 | Highly Destabilizing | 0.116 | N | 0.46 | neutral | None | None | None | None | I |
| Q/E | 0.0872 | likely_benign | 0.0857 | benign | -1.867 | Destabilizing | None | N | 0.169 | neutral | N | 0.311146792 | None | None | I |
| Q/F | 0.811 | likely_pathogenic | 0.7695 | pathogenic | -0.225 | Destabilizing | 0.818 | D | 0.617 | neutral | None | None | None | None | I |
| Q/G | 0.5038 | ambiguous | 0.4994 | ambiguous | -0.485 | Destabilizing | 0.388 | N | 0.566 | neutral | None | None | None | None | I |
| Q/H | 0.4723 | ambiguous | 0.4338 | ambiguous | -0.692 | Destabilizing | 0.773 | D | 0.548 | neutral | N | 0.478901582 | None | None | I |
| Q/I | 0.3824 | ambiguous | 0.3483 | ambiguous | 0.687 | Stabilizing | 0.818 | D | 0.625 | neutral | None | None | None | None | I |
| Q/K | 0.1825 | likely_benign | 0.1866 | benign | -0.182 | Destabilizing | 0.09 | N | 0.373 | neutral | N | 0.432225261 | None | None | I |
| Q/L | 0.2488 | likely_benign | 0.2242 | benign | 0.687 | Stabilizing | 0.324 | N | 0.564 | neutral | N | 0.449475635 | None | None | I |
| Q/M | 0.3778 | ambiguous | 0.3328 | benign | 0.934 | Stabilizing | 0.932 | D | 0.544 | neutral | None | None | None | None | I |
| Q/N | 0.5839 | likely_pathogenic | 0.533 | ambiguous | -1.007 | Destabilizing | 0.388 | N | 0.463 | neutral | None | None | None | None | I |
| Q/P | 0.9631 | likely_pathogenic | 0.9673 | pathogenic | 0.439 | Stabilizing | 0.492 | N | 0.593 | neutral | N | 0.47049709 | None | None | I |
| Q/R | 0.1963 | likely_benign | 0.1888 | benign | -0.212 | Destabilizing | 0.001 | N | 0.17 | neutral | N | 0.440126869 | None | None | I |
| Q/S | 0.3852 | ambiguous | 0.3413 | ambiguous | -0.934 | Destabilizing | 0.207 | N | 0.469 | neutral | None | None | None | None | I |
| Q/T | 0.2672 | likely_benign | 0.2461 | benign | -0.632 | Destabilizing | 0.388 | N | 0.516 | neutral | None | None | None | None | I |
| Q/V | 0.2026 | likely_benign | 0.1839 | benign | 0.439 | Stabilizing | 0.388 | N | 0.561 | neutral | None | None | None | None | I |
| Q/W | 0.7779 | likely_pathogenic | 0.7653 | pathogenic | -0.398 | Destabilizing | 0.981 | D | 0.644 | neutral | None | None | None | None | I |
| Q/Y | 0.6926 | likely_pathogenic | 0.6473 | pathogenic | 0.1 | Stabilizing | 0.818 | D | 0.613 | neutral | None | None | None | None | 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.