Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6626 | 20101;20102;20103 | chr2:178727702;178727701;178727700 | chr2:179592429;179592428;179592427 |
| N2AB | 6309 | 19150;19151;19152 | chr2:178727702;178727701;178727700 | chr2:179592429;179592428;179592427 |
| N2A | 5382 | 16369;16370;16371 | chr2:178727702;178727701;178727700 | chr2:179592429;179592428;179592427 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1362220931  |
-0.243 | 0.999 | N | 0.688 | 0.315 | 0.32714864917 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/R | rs770749098 |
-0.671 | 0.999 | N | 0.725 | 0.478 | 0.562879358496 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs770749098 |
-0.671 | 0.999 | N | 0.725 | 0.478 | 0.562879358496 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1362220931 |
None | 0.884 | N | 0.528 | 0.301 | 0.531484362937 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.204 | likely_benign | 0.2005 | benign | -0.271 | Destabilizing | 0.767 | D | 0.346 | neutral | N | 0.461811869 | None | None | N |
| G/C | 0.4087 | ambiguous | 0.4075 | ambiguous | -1.056 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/D | 0.1669 | likely_benign | 0.1743 | benign | -0.242 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/E | 0.2259 | likely_benign | 0.218 | benign | -0.361 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | N | 0.457635413 | None | None | N |
| G/F | 0.719 | likely_pathogenic | 0.7123 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/H | 0.5039 | ambiguous | 0.5412 | ambiguous | -0.287 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/I | 0.471 | ambiguous | 0.4381 | ambiguous | -0.35 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/K | 0.5008 | ambiguous | 0.5058 | ambiguous | -0.702 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/L | 0.6134 | likely_pathogenic | 0.5946 | pathogenic | -0.35 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/M | 0.6419 | likely_pathogenic | 0.607 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/N | 0.2472 | likely_benign | 0.2695 | benign | -0.53 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/P | 0.834 | likely_pathogenic | 0.8476 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/Q | 0.4117 | ambiguous | 0.4289 | ambiguous | -0.692 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/R | 0.4217 | ambiguous | 0.4343 | ambiguous | -0.35 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.468661943 | None | None | N |
| G/S | 0.1399 | likely_benign | 0.1438 | benign | -0.752 | Destabilizing | 0.998 | D | 0.649 | neutral | None | None | None | None | N |
| G/T | 0.3091 | likely_benign | 0.2832 | benign | -0.78 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/V | 0.3192 | likely_benign | 0.2883 | benign | -0.294 | Destabilizing | 0.884 | D | 0.528 | neutral | N | 0.465156451 | None | None | N |
| G/W | 0.6057 | likely_pathogenic | 0.6119 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.488376041 | None | None | N |
| G/Y | 0.5037 | ambiguous | 0.4986 | ambiguous | -0.628 | Destabilizing | 1.0 | D | 0.746 | 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.