Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23774 | 71545;71546;71547 | chr2:178574812;178574811;178574810 | chr2:179439539;179439538;179439537 |
| N2AB | 22133 | 66622;66623;66624 | chr2:178574812;178574811;178574810 | chr2:179439539;179439538;179439537 |
| N2A | 21206 | 63841;63842;63843 | chr2:178574812;178574811;178574810 | chr2:179439539;179439538;179439537 |
| N2B | 14709 | 44350;44351;44352 | chr2:178574812;178574811;178574810 | chr2:179439539;179439538;179439537 |
| Novex-1 | 14834 | 44725;44726;44727 | chr2:178574812;178574811;178574810 | chr2:179439539;179439538;179439537 |
| Novex-2 | 14901 | 44926;44927;44928 | chr2:178574812;178574811;178574810 | chr2:179439539;179439538;179439537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | None | None | 1.0 | N | 0.662 | 0.535 | 0.777478822742 | gnomAD-4.0.0 | 6.84885E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16117E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9919 | likely_pathogenic | 0.9894 | pathogenic | -3.242 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| W/C | 0.9966 | likely_pathogenic | 0.9965 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.668 | neutral | D | 0.545168611 | None | None | I |
| W/D | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| W/E | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| W/F | 0.6545 | likely_pathogenic | 0.6637 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| W/G | 0.9803 | likely_pathogenic | 0.9747 | pathogenic | -3.424 | Highly Destabilizing | 1.0 | D | 0.662 | neutral | N | 0.521277458 | None | None | I |
| W/H | 0.9938 | likely_pathogenic | 0.9935 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| W/I | 0.9916 | likely_pathogenic | 0.9902 | pathogenic | -2.579 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| W/K | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| W/L | 0.9734 | likely_pathogenic | 0.9721 | pathogenic | -2.579 | Highly Destabilizing | 1.0 | D | 0.662 | neutral | N | 0.516896138 | None | None | I |
| W/M | 0.9908 | likely_pathogenic | 0.9895 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| W/N | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| W/P | 0.9955 | likely_pathogenic | 0.9931 | pathogenic | -2.815 | Highly Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| W/Q | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.864 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| W/R | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.526557377 | None | None | I |
| W/S | 0.9854 | likely_pathogenic | 0.9827 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.53127741 | None | None | I |
| W/T | 0.9926 | likely_pathogenic | 0.9909 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| W/V | 0.989 | likely_pathogenic | 0.9876 | pathogenic | -2.815 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| W/Y | 0.8666 | likely_pathogenic | 0.8827 | pathogenic | -1.89 | Destabilizing | 1.0 | D | 0.588 | 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.