Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28497 | 85714;85715;85716 | chr2:178560643;178560642;178560641 | chr2:179425370;179425369;179425368 |
| N2AB | 26856 | 80791;80792;80793 | chr2:178560643;178560642;178560641 | chr2:179425370;179425369;179425368 |
| N2A | 25929 | 78010;78011;78012 | chr2:178560643;178560642;178560641 | chr2:179425370;179425369;179425368 |
| N2B | 19432 | 58519;58520;58521 | chr2:178560643;178560642;178560641 | chr2:179425370;179425369;179425368 |
| Novex-1 | 19557 | 58894;58895;58896 | chr2:178560643;178560642;178560641 | chr2:179425370;179425369;179425368 |
| Novex-2 | 19624 | 59095;59096;59097 | chr2:178560643;178560642;178560641 | chr2:179425370;179425369;179425368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.994 | N | 0.593 | 0.324 | 0.400468435593 | gnomAD-4.0.0 | 6.84286E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52372E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.919 | N | 0.517 | 0.155 | 0.227934060464 | gnomAD-4.0.0 | 6.84286E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99468E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4792 | ambiguous | 0.5584 | ambiguous | -0.453 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| A/D | 0.3916 | ambiguous | 0.525 | ambiguous | -0.816 | Destabilizing | 0.991 | D | 0.673 | neutral | None | None | None | None | I |
| A/E | 0.3219 | likely_benign | 0.4217 | ambiguous | -0.912 | Destabilizing | 0.988 | D | 0.583 | neutral | N | 0.468511341 | None | None | I |
| A/F | 0.3728 | ambiguous | 0.446 | ambiguous | -0.954 | Destabilizing | 0.995 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/G | 0.1668 | likely_benign | 0.2014 | benign | -0.724 | Destabilizing | 0.958 | D | 0.523 | neutral | N | 0.480229845 | None | None | I |
| A/H | 0.4799 | ambiguous | 0.561 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| A/I | 0.244 | likely_benign | 0.2912 | benign | -0.359 | Destabilizing | 0.991 | D | 0.609 | neutral | None | None | None | None | I |
| A/K | 0.475 | ambiguous | 0.5942 | pathogenic | -0.877 | Destabilizing | 0.991 | D | 0.591 | neutral | None | None | None | None | I |
| A/L | 0.1534 | likely_benign | 0.1804 | benign | -0.359 | Destabilizing | 0.938 | D | 0.541 | neutral | None | None | None | None | I |
| A/M | 0.2534 | likely_benign | 0.2842 | benign | -0.328 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| A/N | 0.2711 | likely_benign | 0.3375 | benign | -0.418 | Destabilizing | 0.991 | D | 0.666 | neutral | None | None | None | None | I |
| A/P | 0.3008 | likely_benign | 0.4126 | ambiguous | -0.395 | Destabilizing | 0.994 | D | 0.593 | neutral | N | 0.514113132 | None | None | I |
| A/Q | 0.3364 | likely_benign | 0.3884 | ambiguous | -0.656 | Destabilizing | 0.995 | D | 0.633 | neutral | None | None | None | None | I |
| A/R | 0.3762 | ambiguous | 0.4549 | ambiguous | -0.445 | Destabilizing | 0.991 | D | 0.597 | neutral | None | None | None | None | I |
| A/S | 0.0929 | likely_benign | 0.1048 | benign | -0.618 | Destabilizing | 0.919 | D | 0.517 | neutral | N | 0.438689867 | None | None | I |
| A/T | 0.0911 | likely_benign | 0.1052 | benign | -0.64 | Destabilizing | 0.067 | N | 0.357 | neutral | N | 0.441674244 | None | None | I |
| A/V | 0.125 | likely_benign | 0.1428 | benign | -0.395 | Destabilizing | 0.919 | D | 0.527 | neutral | N | 0.463377667 | None | None | I |
| A/W | 0.7458 | likely_pathogenic | 0.8143 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| A/Y | 0.4969 | ambiguous | 0.5849 | pathogenic | -0.832 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | 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.