Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20609 | 62050;62051;62052 | chr2:178589900;178589899;178589898 | chr2:179454627;179454626;179454625 |
| N2AB | 18968 | 57127;57128;57129 | chr2:178589900;178589899;178589898 | chr2:179454627;179454626;179454625 |
| N2A | 18041 | 54346;54347;54348 | chr2:178589900;178589899;178589898 | chr2:179454627;179454626;179454625 |
| N2B | 11544 | 34855;34856;34857 | chr2:178589900;178589899;178589898 | chr2:179454627;179454626;179454625 |
| Novex-1 | 11669 | 35230;35231;35232 | chr2:178589900;178589899;178589898 | chr2:179454627;179454626;179454625 |
| Novex-2 | 11736 | 35431;35432;35433 | chr2:178589900;178589899;178589898 | chr2:179454627;179454626;179454625 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs786205389  |
None | 1.0 | N | 0.895 | 0.456 | 0.627389779515 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| R/C | rs786205389 |
None | 1.0 | N | 0.895 | 0.456 | 0.627389779515 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/C | rs786205389 |
None | 1.0 | N | 0.895 | 0.456 | 0.627389779515 | gnomAD-4.0.0 | 4.15323E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08667E-05 | 1.09801E-05 | 9.60892E-05 |
| R/H | rs372546292 |
-2.435 | 1.0 | N | 0.768 | 0.506 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 1.29216E-04 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/H | rs372546292 |
-2.435 | 1.0 | N | 0.768 | 0.506 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 7.25E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs372546292 |
-2.435 | 1.0 | N | 0.768 | 0.506 | None | gnomAD-4.0.0 | 1.30178E-05 | None | None | None | None | N | None | 4.00812E-05 | 6.67267E-05 | None | 0 | 0 | None | 0 | 0 | 1.1021E-05 | 0 | 1.60143E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9909 | likely_pathogenic | 0.9878 | pathogenic | -2.3 | Highly Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| R/C | 0.7764 | likely_pathogenic | 0.7094 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.502629489 | None | None | N |
| R/D | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| R/E | 0.9861 | likely_pathogenic | 0.9837 | pathogenic | -0.928 | Destabilizing | 0.999 | D | 0.54 | neutral | None | None | None | None | N |
| R/F | 0.9931 | likely_pathogenic | 0.9916 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| R/G | 0.9812 | likely_pathogenic | 0.9758 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.485437796 | None | None | N |
| R/H | 0.7139 | likely_pathogenic | 0.6801 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.482982261 | None | None | N |
| R/I | 0.9827 | likely_pathogenic | 0.9779 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| R/K | 0.4056 | ambiguous | 0.3655 | ambiguous | -1.178 | Destabilizing | 0.998 | D | 0.46 | neutral | None | None | None | None | N |
| R/L | 0.9516 | likely_pathogenic | 0.9442 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.486323169 | None | None | N |
| R/M | 0.9745 | likely_pathogenic | 0.9663 | pathogenic | -1.763 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| R/N | 0.9957 | likely_pathogenic | 0.9949 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| R/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.523545637 | None | None | N |
| R/Q | 0.5469 | ambiguous | 0.5073 | ambiguous | -1.219 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| R/S | 0.9949 | likely_pathogenic | 0.9937 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.469393775 | None | None | N |
| R/T | 0.9916 | likely_pathogenic | 0.9894 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/V | 0.9856 | likely_pathogenic | 0.9819 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| R/W | 0.9368 | likely_pathogenic | 0.9271 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| R/Y | 0.9752 | likely_pathogenic | 0.971 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.916 | 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.