Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30353 | 91282;91283;91284 | chr2:178551843;178551842;178551841 | chr2:179416570;179416569;179416568 |
| N2AB | 28712 | 86359;86360;86361 | chr2:178551843;178551842;178551841 | chr2:179416570;179416569;179416568 |
| N2A | 27785 | 83578;83579;83580 | chr2:178551843;178551842;178551841 | chr2:179416570;179416569;179416568 |
| N2B | 21288 | 64087;64088;64089 | chr2:178551843;178551842;178551841 | chr2:179416570;179416569;179416568 |
| Novex-1 | 21413 | 64462;64463;64464 | chr2:178551843;178551842;178551841 | chr2:179416570;179416569;179416568 |
| Novex-2 | 21480 | 64663;64664;64665 | chr2:178551843;178551842;178551841 | chr2:179416570;179416569;179416568 |
| 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/C | None | None | 1.0 | D | 0.799 | 0.658 | 0.807051707292 | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85794E-06 | 0 | 0 |
| G/D | rs1244673503  |
None | 1.0 | N | 0.732 | 0.55 | 0.42828666871 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1244673503 |
None | 1.0 | N | 0.732 | 0.55 | 0.42828666871 | gnomAD-4.0.0 | 3.84302E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1783E-06 | 0 | 0 |
| G/R | rs779096830 |
-0.304 | 1.0 | N | 0.81 | 0.557 | 0.725273120455 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/R | rs779096830 |
-0.304 | 1.0 | N | 0.81 | 0.557 | 0.725273120455 | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85794E-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 | 0.6963 | likely_pathogenic | 0.7617 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.652 | neutral | N | 0.490517132 | None | None | I |
| G/C | 0.7718 | likely_pathogenic | 0.8372 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.530159137 | None | None | I |
| G/D | 0.7985 | likely_pathogenic | 0.8554 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.509230498 | None | None | I |
| G/E | 0.8759 | likely_pathogenic | 0.9142 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/F | 0.957 | likely_pathogenic | 0.9722 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9148 | likely_pathogenic | 0.9413 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.9523 | likely_pathogenic | 0.9706 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/K | 0.9279 | likely_pathogenic | 0.9547 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/L | 0.9366 | likely_pathogenic | 0.9527 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/M | 0.9505 | likely_pathogenic | 0.9641 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/N | 0.7889 | likely_pathogenic | 0.8289 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/P | 0.9938 | likely_pathogenic | 0.9964 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Q | 0.8736 | likely_pathogenic | 0.9084 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.8587 | likely_pathogenic | 0.9059 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.502900622 | None | None | I |
| G/S | 0.4456 | ambiguous | 0.5151 | ambiguous | -0.51 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.494516377 | None | None | I |
| G/T | 0.8672 | likely_pathogenic | 0.9032 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/V | 0.9261 | likely_pathogenic | 0.9541 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.535728544 | None | None | I |
| G/W | 0.9442 | likely_pathogenic | 0.9641 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/Y | 0.9186 | likely_pathogenic | 0.9467 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | 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.