Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33274 | 100045;100046;100047 | chr2:178537387;178537386;178537385 | chr2:179402114;179402113;179402112 |
| N2AB | 31633 | 95122;95123;95124 | chr2:178537387;178537386;178537385 | chr2:179402114;179402113;179402112 |
| N2A | 30706 | 92341;92342;92343 | chr2:178537387;178537386;178537385 | chr2:179402114;179402113;179402112 |
| N2B | 24209 | 72850;72851;72852 | chr2:178537387;178537386;178537385 | chr2:179402114;179402113;179402112 |
| Novex-1 | 24334 | 73225;73226;73227 | chr2:178537387;178537386;178537385 | chr2:179402114;179402113;179402112 |
| Novex-2 | 24401 | 73426;73427;73428 | chr2:178537387;178537386;178537385 | chr2:179402114;179402113;179402112 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 1.0 | N | 0.772 | 0.686 | 0.326345978581 | gnomAD-4.0.0 | 6.90743E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06571E-07 | 0 | 0 |
| N/T | None | None | 1.0 | N | 0.737 | 0.681 | 0.448794319169 | gnomAD-4.0.0 | 1.62711E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79705E-05 | None | 0 | 0 | 0 | 0 | 0 |
| N/Y | None | None | 1.0 | N | 0.761 | 0.724 | 0.662192778189 | gnomAD-4.0.0 | 1.38149E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81314E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9946 | likely_pathogenic | 0.9941 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| N/C | 0.9603 | likely_pathogenic | 0.9595 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| N/D | 0.9711 | likely_pathogenic | 0.9466 | pathogenic | -0.631 | Destabilizing | 0.999 | D | 0.642 | neutral | N | 0.504858724 | None | None | I |
| N/E | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| N/G | 0.9851 | likely_pathogenic | 0.9806 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.586 | neutral | None | None | None | None | I |
| N/H | 0.9728 | likely_pathogenic | 0.9571 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.506126172 | None | None | I |
| N/I | 0.9952 | likely_pathogenic | 0.9956 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.506379661 | None | None | I |
| N/K | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.505619193 | None | None | I |
| N/L | 0.9849 | likely_pathogenic | 0.9854 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| N/M | 0.9946 | likely_pathogenic | 0.9941 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| N/P | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/Q | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| N/R | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| N/S | 0.7299 | likely_pathogenic | 0.6849 | pathogenic | -0.859 | Destabilizing | 0.999 | D | 0.602 | neutral | N | 0.492488461 | None | None | I |
| N/T | 0.9365 | likely_pathogenic | 0.9212 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.505112214 | None | None | I |
| N/V | 0.9921 | likely_pathogenic | 0.9931 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| N/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| N/Y | 0.9945 | likely_pathogenic | 0.9924 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.506126172 | None | None | I |
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.