Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23769 | 71530;71531;71532 | chr2:178574827;178574826;178574825 | chr2:179439554;179439553;179439552 |
| N2AB | 22128 | 66607;66608;66609 | chr2:178574827;178574826;178574825 | chr2:179439554;179439553;179439552 |
| N2A | 21201 | 63826;63827;63828 | chr2:178574827;178574826;178574825 | chr2:179439554;179439553;179439552 |
| N2B | 14704 | 44335;44336;44337 | chr2:178574827;178574826;178574825 | chr2:179439554;179439553;179439552 |
| Novex-1 | 14829 | 44710;44711;44712 | chr2:178574827;178574826;178574825 | chr2:179439554;179439553;179439552 |
| Novex-2 | 14896 | 44911;44912;44913 | chr2:178574827;178574826;178574825 | chr2:179439554;179439553;179439552 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs776889753  |
-0.979 | 0.999 | N | 0.572 | 0.299 | 0.327419511103 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| T/A | rs776889753 |
-0.979 | 0.999 | N | 0.572 | 0.299 | 0.327419511103 | gnomAD-4.0.0 | 1.43761E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87652E-05 | 0 | 1.70956E-05 | 0 | 1.65766E-05 |
| T/S | rs776889753 |
-1.298 | 0.999 | N | 0.596 | 0.206 | 0.310458034454 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.7E-05 | 0 |
| T/S | rs776889753 |
-1.298 | 0.999 | N | 0.596 | 0.206 | 0.310458034454 | gnomAD-4.0.0 | 2.05372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.4806E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1164 | likely_benign | 0.1371 | benign | -0.765 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.419586818 | None | None | N |
| T/C | 0.5927 | likely_pathogenic | 0.5599 | ambiguous | -0.543 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| T/D | 0.736 | likely_pathogenic | 0.715 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/E | 0.5782 | likely_pathogenic | 0.5622 | ambiguous | -0.887 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/F | 0.6953 | likely_pathogenic | 0.6541 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| T/G | 0.3887 | ambiguous | 0.3672 | ambiguous | -0.997 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/H | 0.5766 | likely_pathogenic | 0.5511 | ambiguous | -1.307 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| T/I | 0.4076 | ambiguous | 0.3717 | ambiguous | -0.241 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.489582834 | None | None | N |
| T/K | 0.3302 | likely_benign | 0.3309 | benign | -0.865 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/L | 0.2406 | likely_benign | 0.2227 | benign | -0.241 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| T/M | 0.1316 | likely_benign | 0.1255 | benign | 0.192 | Stabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| T/N | 0.2523 | likely_benign | 0.2339 | benign | -0.834 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.488582756 | None | None | N |
| T/P | 0.2864 | likely_benign | 0.2764 | benign | -0.385 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.458779924 | None | None | N |
| T/Q | 0.4079 | ambiguous | 0.3964 | ambiguous | -1.117 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| T/R | 0.3254 | likely_benign | 0.3236 | benign | -0.49 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| T/S | 0.1856 | likely_benign | 0.1683 | benign | -1.011 | Destabilizing | 0.999 | D | 0.596 | neutral | N | 0.46097208 | None | None | N |
| T/V | 0.2598 | likely_benign | 0.2387 | benign | -0.385 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| T/W | 0.8974 | likely_pathogenic | 0.8791 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| T/Y | 0.6913 | likely_pathogenic | 0.6552 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | 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.