Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25043 | 75352;75353;75354 | chr2:178571005;178571004;178571003 | chr2:179435732;179435731;179435730 |
| N2AB | 23402 | 70429;70430;70431 | chr2:178571005;178571004;178571003 | chr2:179435732;179435731;179435730 |
| N2A | 22475 | 67648;67649;67650 | chr2:178571005;178571004;178571003 | chr2:179435732;179435731;179435730 |
| N2B | 15978 | 48157;48158;48159 | chr2:178571005;178571004;178571003 | chr2:179435732;179435731;179435730 |
| Novex-1 | 16103 | 48532;48533;48534 | chr2:178571005;178571004;178571003 | chr2:179435732;179435731;179435730 |
| Novex-2 | 16170 | 48733;48734;48735 | chr2:178571005;178571004;178571003 | chr2:179435732;179435731;179435730 |
| 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 | 0.999 | D | 0.607 | 0.588 | 0.699529956698 | gnomAD-4.0.0 | 7.96176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14435E-05 | 1.43299E-05 | 0 |
| V/F | rs559907766  |
-1.573 | 1.0 | D | 0.809 | 0.513 | 0.793268036239 | gnomAD-2.1.1 | 1.00722E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.19519E-04 | None | 0 | 2.67E-05 | 0 |
| V/F | rs559907766 |
-1.573 | 1.0 | D | 0.809 | 0.513 | 0.793268036239 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.03563E-03 | 0 |
| V/F | rs559907766 |
-1.573 | 1.0 | D | 0.809 | 0.513 | 0.793268036239 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 3.1E-03 | None |
| V/F | rs559907766 |
-1.573 | 1.0 | D | 0.809 | 0.513 | 0.793268036239 | gnomAD-4.0.0 | 6.32342E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78396E-06 | 9.88316E-04 | 6.40451E-05 |
| V/I | None | None | 0.997 | N | 0.595 | 0.237 | 0.556302983289 | gnomAD-4.0.0 | 4.79148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29896E-06 | 0 | 0 |
| V/L | rs559907766 |
-0.182 | 0.997 | D | 0.627 | 0.299 | 0.548993143269 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs559907766 |
-0.182 | 0.997 | D | 0.627 | 0.299 | 0.548993143269 | gnomAD-4.0.0 | 1.36899E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99852E-07 | 1.15955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8079 | likely_pathogenic | 0.8232 | pathogenic | -2.169 | Highly Destabilizing | 0.999 | D | 0.607 | neutral | D | 0.540325171 | None | None | N |
| V/C | 0.9755 | likely_pathogenic | 0.9796 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.109 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.559189894 | None | None | N |
| V/E | 0.9966 | likely_pathogenic | 0.9965 | pathogenic | -2.772 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/F | 0.9458 | likely_pathogenic | 0.9485 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.558936405 | None | None | N |
| V/G | 0.97 | likely_pathogenic | 0.9716 | pathogenic | -2.784 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.559189894 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.778 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.0923 | likely_benign | 0.0948 | benign | -0.365 | Destabilizing | 0.997 | D | 0.595 | neutral | N | 0.461535015 | None | None | N |
| V/K | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/L | 0.5859 | likely_pathogenic | 0.6046 | pathogenic | -0.365 | Destabilizing | 0.997 | D | 0.627 | neutral | D | 0.524415844 | None | None | N |
| V/M | 0.7622 | likely_pathogenic | 0.7665 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| V/N | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -2.453 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/P | 0.9891 | likely_pathogenic | 0.9902 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/Q | 0.9962 | likely_pathogenic | 0.9962 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/R | 0.994 | likely_pathogenic | 0.9942 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.9783 | likely_pathogenic | 0.9798 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/T | 0.8543 | likely_pathogenic | 0.8641 | pathogenic | -2.384 | Highly Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | N |
| V/W | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Y | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.809 | deleterious | 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.