Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16664 | 50215;50216;50217 | chr2:178612535;178612534;178612533 | chr2:179477262;179477261;179477260 |
| N2AB | 15023 | 45292;45293;45294 | chr2:178612535;178612534;178612533 | chr2:179477262;179477261;179477260 |
| N2A | 14096 | 42511;42512;42513 | chr2:178612535;178612534;178612533 | chr2:179477262;179477261;179477260 |
| N2B | 7599 | 23020;23021;23022 | chr2:178612535;178612534;178612533 | chr2:179477262;179477261;179477260 |
| Novex-1 | 7724 | 23395;23396;23397 | chr2:178612535;178612534;178612533 | chr2:179477262;179477261;179477260 |
| Novex-2 | 7791 | 23596;23597;23598 | chr2:178612535;178612534;178612533 | chr2:179477262;179477261;179477260 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1171944721  |
-0.024 | 0.994 | D | 0.431 | 0.441 | 0.564429724435 | gnomAD-2.1.1 | 8.23E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.21E-06 | 1.69434E-04 |
| T/I | rs1171944721 |
-0.024 | 0.994 | D | 0.431 | 0.441 | 0.564429724435 | gnomAD-4.0.0 | 7.97939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79455E-05 | None | 0 | 2.41896E-04 | 5.72692E-06 | 1.43476E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2695 | likely_benign | 0.2964 | benign | -0.498 | Destabilizing | 0.835 | D | 0.463 | neutral | D | 0.547608203 | None | None | N |
| T/C | 0.797 | likely_pathogenic | 0.8278 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.485 | neutral | None | None | None | None | N |
| T/D | 0.7909 | likely_pathogenic | 0.8316 | pathogenic | -1.653 | Destabilizing | 0.97 | D | 0.457 | neutral | None | None | None | None | N |
| T/E | 0.7737 | likely_pathogenic | 0.8122 | pathogenic | -1.631 | Destabilizing | 0.97 | D | 0.461 | neutral | None | None | None | None | N |
| T/F | 0.7796 | likely_pathogenic | 0.8061 | pathogenic | -0.695 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| T/G | 0.3775 | ambiguous | 0.4323 | ambiguous | -0.753 | Destabilizing | 0.97 | D | 0.477 | neutral | None | None | None | None | N |
| T/H | 0.6663 | likely_pathogenic | 0.6959 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| T/I | 0.7581 | likely_pathogenic | 0.7788 | pathogenic | 0.093 | Stabilizing | 0.994 | D | 0.431 | neutral | D | 0.610526414 | None | None | N |
| T/K | 0.6469 | likely_pathogenic | 0.7206 | pathogenic | -0.82 | Destabilizing | 0.961 | D | 0.457 | neutral | D | 0.550430891 | None | None | N |
| T/L | 0.4104 | ambiguous | 0.4199 | ambiguous | 0.093 | Stabilizing | 0.985 | D | 0.45 | neutral | None | None | None | None | N |
| T/M | 0.3582 | ambiguous | 0.337 | benign | 0.439 | Stabilizing | 1.0 | D | 0.489 | neutral | None | None | None | None | N |
| T/N | 0.3191 | likely_benign | 0.3327 | benign | -1.115 | Destabilizing | 0.97 | D | 0.45 | neutral | None | None | None | None | N |
| T/P | 0.8142 | likely_pathogenic | 0.858 | pathogenic | -0.073 | Destabilizing | 0.994 | D | 0.425 | neutral | D | 0.63738631 | None | None | N |
| T/Q | 0.5178 | ambiguous | 0.5526 | ambiguous | -1.342 | Destabilizing | 0.996 | D | 0.467 | neutral | None | None | None | None | N |
| T/R | 0.6173 | likely_pathogenic | 0.6793 | pathogenic | -0.546 | Destabilizing | 0.994 | D | 0.463 | neutral | D | 0.528333192 | None | None | N |
| T/S | 0.1717 | likely_benign | 0.1792 | benign | -1.105 | Destabilizing | 0.287 | N | 0.151 | neutral | N | 0.473222934 | None | None | N |
| T/V | 0.5592 | ambiguous | 0.5916 | pathogenic | -0.073 | Destabilizing | 0.985 | D | 0.437 | neutral | None | None | None | None | N |
| T/W | 0.952 | likely_pathogenic | 0.9639 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| T/Y | 0.8375 | likely_pathogenic | 0.8728 | pathogenic | -0.44 | Destabilizing | 0.999 | D | 0.564 | neutral | 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.