Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22781 | 68566;68567;68568 | chr2:178578174;178578173;178578172 | chr2:179442901;179442900;179442899 |
| N2AB | 21140 | 63643;63644;63645 | chr2:178578174;178578173;178578172 | chr2:179442901;179442900;179442899 |
| N2A | 20213 | 60862;60863;60864 | chr2:178578174;178578173;178578172 | chr2:179442901;179442900;179442899 |
| N2B | 13716 | 41371;41372;41373 | chr2:178578174;178578173;178578172 | chr2:179442901;179442900;179442899 |
| Novex-1 | 13841 | 41746;41747;41748 | chr2:178578174;178578173;178578172 | chr2:179442901;179442900;179442899 |
| Novex-2 | 13908 | 41947;41948;41949 | chr2:178578174;178578173;178578172 | chr2:179442901;179442900;179442899 |
| 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/K | rs760286642  |
-1.796 | 1.0 | N | 0.681 | 0.52 | 0.379707525713 | gnomAD-2.1.1 | 3.24E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 4.16E-05 | 4.71E-05 | 0 |
| E/K | rs760286642 |
-1.796 | 1.0 | N | 0.681 | 0.52 | 0.379707525713 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| E/K | rs760286642 |
-1.796 | 1.0 | N | 0.681 | 0.52 | 0.379707525713 | gnomAD-4.0.0 | 1.61351E-05 | None | None | None | None | N | None | 9.35729E-05 | 0 | None | 6.76682E-05 | 0 | None | 1.59104E-05 | 0 | 8.4802E-06 | 3.29953E-05 | 4.80754E-05 |
| E/V | rs775528446 |
-1.002 | 1.0 | D | 0.768 | 0.525 | 0.551879694509 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 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 | 0.8534 | likely_pathogenic | 0.8651 | pathogenic | -2.248 | Highly Destabilizing | 0.999 | D | 0.688 | prob.neutral | D | 0.536837272 | None | None | N |
| E/C | 0.9785 | likely_pathogenic | 0.978 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/D | 0.779 | likely_pathogenic | 0.8357 | pathogenic | -1.84 | Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.484423838 | None | None | N |
| E/F | 0.9833 | likely_pathogenic | 0.9837 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| E/G | 0.9507 | likely_pathogenic | 0.9566 | pathogenic | -2.605 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.520672028 | None | None | N |
| E/H | 0.9666 | likely_pathogenic | 0.9711 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| E/I | 0.9343 | likely_pathogenic | 0.9453 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| E/K | 0.9732 | likely_pathogenic | 0.9821 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.514996807 | None | None | N |
| E/L | 0.9464 | likely_pathogenic | 0.9527 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| E/M | 0.9443 | likely_pathogenic | 0.9485 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/N | 0.9728 | likely_pathogenic | 0.9777 | pathogenic | -2.277 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| E/Q | 0.7208 | likely_pathogenic | 0.7261 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.51465185 | None | None | N |
| E/R | 0.9658 | likely_pathogenic | 0.9736 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/S | 0.904 | likely_pathogenic | 0.9118 | pathogenic | -3.0 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| E/T | 0.9482 | likely_pathogenic | 0.9535 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/V | 0.8754 | likely_pathogenic | 0.8909 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.522620584 | None | None | N |
| E/W | 0.9943 | likely_pathogenic | 0.9951 | pathogenic | -1.897 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| E/Y | 0.9697 | likely_pathogenic | 0.9744 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.811 | 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.