Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26723 | 80392;80393;80394 | chr2:178565965;178565964;178565963 | chr2:179430692;179430691;179430690 |
| N2AB | 25082 | 75469;75470;75471 | chr2:178565965;178565964;178565963 | chr2:179430692;179430691;179430690 |
| N2A | 24155 | 72688;72689;72690 | chr2:178565965;178565964;178565963 | chr2:179430692;179430691;179430690 |
| N2B | 17658 | 53197;53198;53199 | chr2:178565965;178565964;178565963 | chr2:179430692;179430691;179430690 |
| Novex-1 | 17783 | 53572;53573;53574 | chr2:178565965;178565964;178565963 | chr2:179430692;179430691;179430690 |
| Novex-2 | 17850 | 53773;53774;53775 | chr2:178565965;178565964;178565963 | chr2:179430692;179430691;179430690 |
| 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 | rs1412497882  |
-1.993 | 1.0 | N | 0.754 | 0.508 | 0.359357374593 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.91E-06 | 0 |
| R/C | rs1412497882 |
-1.993 | 1.0 | N | 0.754 | 0.508 | 0.359357374593 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs1412497882 |
-1.993 | 1.0 | N | 0.754 | 0.508 | 0.359357374593 | gnomAD-4.0.0 | 1.36352E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.5623E-05 | 0 | 1.44108E-05 | 2.19582E-05 | 3.20266E-05 |
| R/H | rs371615296 |
-2.7 | 0.999 | N | 0.584 | 0.534 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.91E-05 | 1.40568E-04 |
| R/H | rs371615296 |
-2.7 | 0.999 | N | 0.584 | 0.534 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.20668E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs371615296 |
-2.7 | 0.999 | N | 0.584 | 0.534 | None | gnomAD-4.0.0 | 1.6114E-05 | None | None | None | None | N | None | 6.67628E-05 | 0 | None | 3.37929E-05 | 0 | None | 0 | 1.64582E-04 | 9.32447E-06 | 3.29366E-05 | 8.00692E-05 |
| R/L | None | None | 0.986 | N | 0.641 | 0.506 | 0.345859378078 | gnomAD-4.0.0 | 6.84275E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99543E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9949 | likely_pathogenic | 0.9934 | pathogenic | -2.247 | Highly Destabilizing | 0.978 | D | 0.51 | neutral | None | None | None | None | N |
| R/C | 0.8844 | likely_pathogenic | 0.8777 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.495237165 | None | None | N |
| R/D | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.896 | Destabilizing | 0.997 | D | 0.72 | prob.delet. | None | None | None | None | N |
| R/E | 0.9911 | likely_pathogenic | 0.9899 | pathogenic | -0.684 | Destabilizing | 0.93 | D | 0.439 | neutral | None | None | None | None | N |
| R/F | 0.9955 | likely_pathogenic | 0.9948 | pathogenic | -1.502 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| R/G | 0.9904 | likely_pathogenic | 0.9868 | pathogenic | -2.579 | Highly Destabilizing | 0.994 | D | 0.641 | neutral | N | 0.508644159 | None | None | N |
| R/H | 0.8407 | likely_pathogenic | 0.839 | pathogenic | -2.319 | Highly Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.507011545 | None | None | N |
| R/I | 0.9905 | likely_pathogenic | 0.9898 | pathogenic | -1.276 | Destabilizing | 0.996 | D | 0.795 | deleterious | None | None | None | None | N |
| R/K | 0.4938 | ambiguous | 0.5306 | ambiguous | -1.389 | Destabilizing | 0.032 | N | 0.223 | neutral | None | None | None | None | N |
| R/L | 0.9732 | likely_pathogenic | 0.9721 | pathogenic | -1.276 | Destabilizing | 0.986 | D | 0.641 | neutral | N | 0.510352453 | None | None | N |
| R/M | 0.9819 | likely_pathogenic | 0.9794 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| R/N | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -1.286 | Destabilizing | 0.997 | D | 0.545 | neutral | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.591 | Destabilizing | 0.999 | D | 0.745 | deleterious | D | 0.540826971 | None | None | N |
| R/Q | 0.7634 | likely_pathogenic | 0.7786 | pathogenic | -1.239 | Destabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | N |
| R/S | 0.9986 | likely_pathogenic | 0.9979 | pathogenic | -2.294 | Highly Destabilizing | 0.994 | D | 0.601 | neutral | N | 0.490954297 | None | None | N |
| R/T | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -1.872 | Destabilizing | 0.997 | D | 0.677 | prob.neutral | None | None | None | None | N |
| R/V | 0.9916 | likely_pathogenic | 0.9901 | pathogenic | -1.591 | Destabilizing | 0.989 | D | 0.774 | deleterious | None | None | None | None | N |
| R/W | 0.9393 | likely_pathogenic | 0.9307 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| R/Y | 0.9812 | likely_pathogenic | 0.9781 | pathogenic | -0.834 | Destabilizing | 0.999 | D | 0.763 | 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.