Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3316 | 10171;10172;10173 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
| N2AB | 3316 | 10171;10172;10173 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
| N2A | 3316 | 10171;10172;10173 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
| N2B | 3270 | 10033;10034;10035 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
| Novex-1 | 3270 | 10033;10034;10035 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
| Novex-2 | 3270 | 10033;10034;10035 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
| Novex-3 | 3316 | 10171;10172;10173 | chr2:178764569;178764568;178764567 | chr2:179629296;179629295;179629294 |
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/A | rs780889180  |
None | 0.999 | N | 0.547 | 0.602 | 0.478451964739 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| D/A | rs780889180 |
None | 0.999 | N | 0.547 | 0.602 | 0.478451964739 | gnomAD-4.0.0 | 6.56927E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| D/G | rs780889180 |
-0.132 | 0.998 | N | 0.572 | 0.668 | 0.332646915603 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| D/G | rs780889180 |
-0.132 | 0.998 | N | 0.572 | 0.668 | 0.332646915603 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | None | None | 0.999 | N | 0.627 | 0.275 | 0.337868961071 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02188E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3594 | ambiguous | 0.3098 | benign | -0.29 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.46584429 | None | None | I |
| D/C | 0.922 | likely_pathogenic | 0.8858 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| D/E | 0.2524 | likely_benign | 0.2423 | benign | -0.268 | Destabilizing | 0.981 | D | 0.389 | neutral | N | 0.466910474 | None | None | I |
| D/F | 0.8988 | likely_pathogenic | 0.867 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| D/G | 0.4489 | ambiguous | 0.3627 | ambiguous | -0.483 | Destabilizing | 0.998 | D | 0.572 | neutral | N | 0.501123153 | None | None | I |
| D/H | 0.625 | likely_pathogenic | 0.5811 | pathogenic | 0.295 | Stabilizing | 1.0 | D | 0.668 | neutral | N | 0.504174263 | None | None | I |
| D/I | 0.6484 | likely_pathogenic | 0.5907 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| D/K | 0.6935 | likely_pathogenic | 0.655 | pathogenic | 0.144 | Stabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | I |
| D/L | 0.7004 | likely_pathogenic | 0.6666 | pathogenic | 0.173 | Stabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | I |
| D/M | 0.8874 | likely_pathogenic | 0.8453 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| D/N | 0.2062 | likely_benign | 0.1764 | benign | -0.197 | Destabilizing | 0.999 | D | 0.627 | neutral | N | 0.508729465 | None | None | I |
| D/P | 0.8213 | likely_pathogenic | 0.7845 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| D/Q | 0.631 | likely_pathogenic | 0.5812 | pathogenic | -0.142 | Destabilizing | 0.967 | D | 0.483 | neutral | None | None | None | None | I |
| D/R | 0.6745 | likely_pathogenic | 0.6299 | pathogenic | 0.468 | Stabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | I |
| D/S | 0.2521 | likely_benign | 0.2146 | benign | -0.319 | Destabilizing | 0.997 | D | 0.561 | neutral | None | None | None | None | I |
| D/T | 0.4878 | ambiguous | 0.4311 | ambiguous | -0.161 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| D/V | 0.4838 | ambiguous | 0.422 | ambiguous | 0.04 | Stabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.50518827 | None | None | I |
| D/W | 0.9815 | likely_pathogenic | 0.975 | pathogenic | 0.056 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| D/Y | 0.5878 | likely_pathogenic | 0.5247 | ambiguous | 0.139 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.55407702 | 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.