Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24747 | 74464;74465;74466 | chr2:178571893;178571892;178571891 | chr2:179436620;179436619;179436618 |
| N2AB | 23106 | 69541;69542;69543 | chr2:178571893;178571892;178571891 | chr2:179436620;179436619;179436618 |
| N2A | 22179 | 66760;66761;66762 | chr2:178571893;178571892;178571891 | chr2:179436620;179436619;179436618 |
| N2B | 15682 | 47269;47270;47271 | chr2:178571893;178571892;178571891 | chr2:179436620;179436619;179436618 |
| Novex-1 | 15807 | 47644;47645;47646 | chr2:178571893;178571892;178571891 | chr2:179436620;179436619;179436618 |
| Novex-2 | 15874 | 47845;47846;47847 | chr2:178571893;178571892;178571891 | chr2:179436620;179436619;179436618 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.007 | D | 0.289 | 0.465 | 0.51081628273 | gnomAD-4.0.0 | 2.05306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 1.15947E-05 | 0 |
| V/G | None | None | 0.549 | D | 0.779 | 0.649 | 0.858287464937 | gnomAD-4.0.0 | 6.84353E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99612E-07 | 0 | 0 |
| V/I | rs776245661  |
0.007 | 0.002 | N | 0.268 | 0.143 | 0.3571064206 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/I | rs776245661 |
0.007 | 0.002 | N | 0.268 | 0.143 | 0.3571064206 | gnomAD-4.0.0 | 6.84351E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99601E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.233 | likely_benign | 0.2521 | benign | -1.445 | Destabilizing | 0.007 | N | 0.289 | neutral | D | 0.578447577 | None | None | N |
| V/C | 0.7287 | likely_pathogenic | 0.7275 | pathogenic | -1.142 | Destabilizing | 0.992 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/D | 0.9048 | likely_pathogenic | 0.9165 | pathogenic | -0.994 | Destabilizing | 0.85 | D | 0.794 | deleterious | None | None | None | None | N |
| V/E | 0.8135 | likely_pathogenic | 0.8436 | pathogenic | -0.861 | Destabilizing | 0.81 | D | 0.779 | deleterious | D | 0.618509412 | None | None | N |
| V/F | 0.3792 | ambiguous | 0.3882 | ambiguous | -0.888 | Destabilizing | 0.85 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/G | 0.4807 | ambiguous | 0.5061 | ambiguous | -1.902 | Destabilizing | 0.549 | D | 0.779 | deleterious | D | 0.602257886 | None | None | N |
| V/H | 0.8982 | likely_pathogenic | 0.9062 | pathogenic | -1.585 | Destabilizing | 0.992 | D | 0.812 | deleterious | None | None | None | None | N |
| V/I | 0.0785 | likely_benign | 0.0757 | benign | -0.235 | Destabilizing | 0.002 | N | 0.268 | neutral | N | 0.441368465 | None | None | N |
| V/K | 0.7671 | likely_pathogenic | 0.7992 | pathogenic | -0.989 | Destabilizing | 0.85 | D | 0.787 | deleterious | None | None | None | None | N |
| V/L | 0.2614 | likely_benign | 0.2608 | benign | -0.235 | Destabilizing | 0.201 | N | 0.51 | neutral | D | 0.533931834 | None | None | N |
| V/M | 0.2131 | likely_benign | 0.2148 | benign | -0.354 | Destabilizing | 0.85 | D | 0.61 | neutral | None | None | None | None | N |
| V/N | 0.7395 | likely_pathogenic | 0.7658 | pathogenic | -1.042 | Destabilizing | 0.85 | D | 0.821 | deleterious | None | None | None | None | N |
| V/P | 0.7463 | likely_pathogenic | 0.7544 | pathogenic | -0.604 | Destabilizing | 0.92 | D | 0.805 | deleterious | None | None | None | None | N |
| V/Q | 0.7414 | likely_pathogenic | 0.7761 | pathogenic | -0.965 | Destabilizing | 0.92 | D | 0.818 | deleterious | None | None | None | None | N |
| V/R | 0.7302 | likely_pathogenic | 0.7608 | pathogenic | -0.86 | Destabilizing | 0.85 | D | 0.824 | deleterious | None | None | None | None | N |
| V/S | 0.4659 | ambiguous | 0.4997 | ambiguous | -1.758 | Destabilizing | 0.447 | N | 0.751 | deleterious | None | None | None | None | N |
| V/T | 0.3533 | ambiguous | 0.3854 | ambiguous | -1.475 | Destabilizing | 0.005 | N | 0.379 | neutral | None | None | None | None | N |
| V/W | 0.9504 | likely_pathogenic | 0.9497 | pathogenic | -1.221 | Destabilizing | 0.992 | D | 0.82 | deleterious | None | None | None | None | N |
| V/Y | 0.8041 | likely_pathogenic | 0.813 | pathogenic | -0.818 | Destabilizing | 0.972 | D | 0.731 | prob.delet. | 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.