Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14322 | 43189;43190;43191 | chr2:178633309;178633308;178633307 | chr2:179498036;179498035;179498034 |
| N2AB | 12681 | 38266;38267;38268 | chr2:178633309;178633308;178633307 | chr2:179498036;179498035;179498034 |
| N2A | 11754 | 35485;35486;35487 | chr2:178633309;178633308;178633307 | chr2:179498036;179498035;179498034 |
| N2B | 5257 | 15994;15995;15996 | chr2:178633309;178633308;178633307 | chr2:179498036;179498035;179498034 |
| Novex-1 | 5382 | 16369;16370;16371 | chr2:178633309;178633308;178633307 | chr2:179498036;179498035;179498034 |
| Novex-2 | 5449 | 16570;16571;16572 | chr2:178633309;178633308;178633307 | chr2:179498036;179498035;179498034 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 0.971 | N | 0.539 | 0.22 | 0.235664433957 | gnomAD-4.0.0 | 6.84563E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99729E-07 | 0 | 0 |
| E/K | rs760193032  |
-0.891 | 0.971 | N | 0.434 | 0.294 | 0.187945064343 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.59E-05 | None | 0 | 0 | 0 |
| E/K | rs760193032 |
-0.891 | 0.971 | N | 0.434 | 0.294 | 0.187945064343 | gnomAD-4.0.0 | 4.10739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.97253E-05 | 0 |
| E/Q | rs760193032 |
None | 0.991 | N | 0.458 | 0.229 | 0.178374595973 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs760193032 |
None | 0.991 | N | 0.458 | 0.229 | 0.178374595973 | gnomAD-4.0.0 | 6.57652E-06 | None | None | None | None | N | None | 0 | 0 | None | 2.88184E-04 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3195 | likely_benign | 0.2934 | benign | -0.814 | Destabilizing | 0.688 | D | 0.473 | neutral | N | 0.432593926 | None | None | N |
| E/C | 0.9468 | likely_pathogenic | 0.9446 | pathogenic | -0.408 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
| E/D | 0.4537 | ambiguous | 0.3876 | ambiguous | -0.711 | Destabilizing | 0.971 | D | 0.465 | neutral | N | 0.435009496 | None | None | N |
| E/F | 0.9155 | likely_pathogenic | 0.9033 | pathogenic | -0.364 | Destabilizing | 0.981 | D | 0.751 | deleterious | None | None | None | None | N |
| E/G | 0.3719 | ambiguous | 0.3355 | benign | -1.103 | Destabilizing | 0.971 | D | 0.539 | neutral | N | 0.436302658 | None | None | N |
| E/H | 0.7788 | likely_pathogenic | 0.7882 | pathogenic | -0.37 | Destabilizing | 0.998 | D | 0.392 | neutral | None | None | None | None | N |
| E/I | 0.4252 | ambiguous | 0.4009 | ambiguous | -0.046 | Destabilizing | 0.78 | D | 0.596 | neutral | None | None | None | None | N |
| E/K | 0.2875 | likely_benign | 0.305 | benign | -0.298 | Destabilizing | 0.971 | D | 0.434 | neutral | N | 0.435009496 | None | None | N |
| E/L | 0.5346 | ambiguous | 0.5147 | ambiguous | -0.046 | Destabilizing | 0.594 | D | 0.589 | neutral | None | None | None | None | N |
| E/M | 0.629 | likely_pathogenic | 0.5995 | pathogenic | 0.227 | Stabilizing | 0.981 | D | 0.695 | prob.delet. | None | None | None | None | N |
| E/N | 0.5768 | likely_pathogenic | 0.517 | ambiguous | -0.745 | Destabilizing | 0.994 | D | 0.417 | neutral | None | None | None | None | N |
| E/P | 0.9594 | likely_pathogenic | 0.9518 | pathogenic | -0.282 | Destabilizing | 0.994 | D | 0.498 | neutral | None | None | None | None | N |
| E/Q | 0.2247 | likely_benign | 0.2349 | benign | -0.664 | Destabilizing | 0.991 | D | 0.458 | neutral | N | 0.433248192 | None | None | N |
| E/R | 0.4432 | ambiguous | 0.4863 | ambiguous | 0.028 | Stabilizing | 0.994 | D | 0.426 | neutral | None | None | None | None | N |
| E/S | 0.4561 | ambiguous | 0.4012 | ambiguous | -0.976 | Destabilizing | 0.935 | D | 0.335 | neutral | None | None | None | None | N |
| E/T | 0.4049 | ambiguous | 0.335 | benign | -0.74 | Destabilizing | 0.876 | D | 0.41 | neutral | None | None | None | None | N |
| E/V | 0.2457 | likely_benign | 0.2327 | benign | -0.282 | Destabilizing | 0.029 | N | 0.405 | neutral | N | 0.308473835 | None | None | N |
| E/W | 0.9732 | likely_pathogenic | 0.9737 | pathogenic | -0.092 | Destabilizing | 0.998 | D | 0.786 | deleterious | None | None | None | None | N |
| E/Y | 0.8882 | likely_pathogenic | 0.8794 | pathogenic | -0.115 | Destabilizing | 0.994 | D | 0.721 | 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.