Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8724 | 26395;26396;26397 | chr2:178715016;178715015;178715014 | chr2:179579743;179579742;179579741 |
| N2AB | 8407 | 25444;25445;25446 | chr2:178715016;178715015;178715014 | chr2:179579743;179579742;179579741 |
| N2A | 7480 | 22663;22664;22665 | chr2:178715016;178715015;178715014 | chr2:179579743;179579742;179579741 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs752485826  |
-0.314 | 0.001 | D | 0.291 | 0.095 | 0.302459207581 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| D/E | rs752485826 |
-0.314 | 0.001 | D | 0.291 | 0.095 | 0.302459207581 | gnomAD-4.0.0 | 6.84888E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00218E-07 | 0 | 0 |
| D/N | rs756034176 |
-0.677 | 0.017 | N | 0.294 | 0.232 | 0.313518423057 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.6E-05 | None | 0 | 8.95E-06 | 0 |
| D/N | rs756034176 |
-0.677 | 0.017 | N | 0.294 | 0.232 | 0.313518423057 | gnomAD-4.0.0 | 4.79472E-06 | None | None | None | None | I | None | 2.99168E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00278E-07 | 5.81788E-05 | 0 |
| D/Y | rs756034176 |
0.102 | 0.995 | D | 0.826 | 0.464 | 0.588745719774 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.6E-05 | None | 0 | 0 | 0 |
| D/Y | rs756034176 |
0.102 | 0.995 | D | 0.826 | 0.464 | 0.588745719774 | gnomAD-4.0.0 | 6.84961E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40167E-06 | 4.6543E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1808 | likely_benign | 0.2266 | benign | -0.644 | Destabilizing | 0.013 | N | 0.523 | neutral | N | 0.478126194 | None | None | I |
| D/C | 0.6371 | likely_pathogenic | 0.7343 | pathogenic | -0.27 | Destabilizing | 0.968 | D | 0.832 | deleterious | None | None | None | None | I |
| D/E | 0.3091 | likely_benign | 0.3808 | ambiguous | -0.641 | Destabilizing | 0.001 | N | 0.291 | neutral | D | 0.526477502 | None | None | I |
| D/F | 0.7296 | likely_pathogenic | 0.8246 | pathogenic | -0.117 | Destabilizing | 0.99 | D | 0.827 | deleterious | None | None | None | None | I |
| D/G | 0.2203 | likely_benign | 0.3145 | benign | -1.009 | Destabilizing | 0.258 | N | 0.643 | neutral | N | 0.491101287 | None | None | I |
| D/H | 0.4591 | ambiguous | 0.5838 | pathogenic | -0.38 | Destabilizing | 0.977 | D | 0.701 | prob.neutral | N | 0.501305504 | None | None | I |
| D/I | 0.576 | likely_pathogenic | 0.6866 | pathogenic | 0.329 | Stabilizing | 0.97 | D | 0.829 | deleterious | None | None | None | None | I |
| D/K | 0.6487 | likely_pathogenic | 0.7674 | pathogenic | -0.338 | Destabilizing | 0.695 | D | 0.659 | neutral | None | None | None | None | I |
| D/L | 0.6364 | likely_pathogenic | 0.7473 | pathogenic | 0.329 | Stabilizing | 0.941 | D | 0.782 | deleterious | None | None | None | None | I |
| D/M | 0.7705 | likely_pathogenic | 0.8553 | pathogenic | 0.748 | Stabilizing | 0.993 | D | 0.815 | deleterious | None | None | None | None | I |
| D/N | 0.1402 | likely_benign | 0.1861 | benign | -0.841 | Destabilizing | 0.017 | N | 0.294 | neutral | N | 0.494531101 | None | None | I |
| D/P | 0.9784 | likely_pathogenic | 0.9896 | pathogenic | 0.03 | Stabilizing | 0.39 | N | 0.721 | prob.delet. | None | None | None | None | I |
| D/Q | 0.5289 | ambiguous | 0.6486 | pathogenic | -0.701 | Destabilizing | 0.857 | D | 0.581 | neutral | None | None | None | None | I |
| D/R | 0.6525 | likely_pathogenic | 0.7749 | pathogenic | -0.134 | Destabilizing | 0.941 | D | 0.791 | deleterious | None | None | None | None | I |
| D/S | 0.1236 | likely_benign | 0.1627 | benign | -1.114 | Destabilizing | 0.389 | N | 0.553 | neutral | None | None | None | None | I |
| D/T | 0.3424 | ambiguous | 0.426 | ambiguous | -0.808 | Destabilizing | 0.361 | N | 0.66 | neutral | None | None | None | None | I |
| D/V | 0.3468 | ambiguous | 0.4502 | ambiguous | 0.03 | Stabilizing | 0.678 | D | 0.782 | deleterious | N | 0.491402136 | None | None | I |
| D/W | 0.9631 | likely_pathogenic | 0.9795 | pathogenic | 0.129 | Stabilizing | 0.997 | D | 0.755 | deleterious | None | None | None | None | I |
| D/Y | 0.4036 | ambiguous | 0.5328 | ambiguous | 0.154 | Stabilizing | 0.995 | D | 0.826 | deleterious | D | 0.5336529 | 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.