Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26123 | 78592;78593;78594 | chr2:178567765;178567764;178567763 | chr2:179432492;179432491;179432490 |
| N2AB | 24482 | 73669;73670;73671 | chr2:178567765;178567764;178567763 | chr2:179432492;179432491;179432490 |
| N2A | 23555 | 70888;70889;70890 | chr2:178567765;178567764;178567763 | chr2:179432492;179432491;179432490 |
| N2B | 17058 | 51397;51398;51399 | chr2:178567765;178567764;178567763 | chr2:179432492;179432491;179432490 |
| Novex-1 | 17183 | 51772;51773;51774 | chr2:178567765;178567764;178567763 | chr2:179432492;179432491;179432490 |
| Novex-2 | 17250 | 51973;51974;51975 | chr2:178567765;178567764;178567763 | chr2:179432492;179432491;179432490 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.847 | 0.868 | 0.842149753793 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Y/N | rs1706474131  |
None | 1.0 | D | 0.855 | 0.844 | 0.88723069334 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.594 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| Y/C | 0.9578 | likely_pathogenic | 0.9411 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.662501049 | None | None | N |
| Y/D | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -3.919 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.662702853 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.708 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/F | 0.368 | ambiguous | 0.3335 | benign | -1.371 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.519154086 | None | None | N |
| Y/G | 0.9951 | likely_pathogenic | 0.9947 | pathogenic | -3.994 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/H | 0.9914 | likely_pathogenic | 0.9902 | pathogenic | -2.616 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.646279883 | None | None | N |
| Y/I | 0.9899 | likely_pathogenic | 0.9868 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.536 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/L | 0.973 | likely_pathogenic | 0.9695 | pathogenic | -2.231 | Highly Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9924 | likely_pathogenic | 0.9904 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| Y/N | 0.986 | likely_pathogenic | 0.9855 | pathogenic | -3.313 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.662702853 | None | None | N |
| Y/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.064 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/R | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| Y/S | 0.9941 | likely_pathogenic | 0.9933 | pathogenic | -3.626 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.662702853 | None | None | N |
| Y/T | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -3.3 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/V | 0.9815 | likely_pathogenic | 0.9763 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| Y/W | 0.9216 | likely_pathogenic | 0.9032 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.787 | 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.