Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16697 | 50314;50315;50316 | chr2:178612436;178612435;178612434 | chr2:179477163;179477162;179477161 |
| N2AB | 15056 | 45391;45392;45393 | chr2:178612436;178612435;178612434 | chr2:179477163;179477162;179477161 |
| N2A | 14129 | 42610;42611;42612 | chr2:178612436;178612435;178612434 | chr2:179477163;179477162;179477161 |
| N2B | 7632 | 23119;23120;23121 | chr2:178612436;178612435;178612434 | chr2:179477163;179477162;179477161 |
| Novex-1 | 7757 | 23494;23495;23496 | chr2:178612436;178612435;178612434 | chr2:179477163;179477162;179477161 |
| Novex-2 | 7824 | 23695;23696;23697 | chr2:178612436;178612435;178612434 | chr2:179477163;179477162;179477161 |
| 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/A | None | None | 0.974 | N | 0.509 | 0.197 | 0.195762928549 | gnomAD-4.0.0 | 1.59394E-06 | None | None | None | None | I | None | 5.67344E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs1553698627  |
-0.346 | 1.0 | D | 0.785 | 0.487 | 0.737189981757 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/C | rs1553698627 |
-0.346 | 1.0 | D | 0.785 | 0.487 | 0.737189981757 | gnomAD-4.0.0 | 2.05408E-06 | None | None | None | None | I | None | 2.99294E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15988E-05 | 1.65859E-05 |
| G/S | rs1553698627 |
-0.338 | 1.0 | N | 0.575 | 0.354 | 0.226586394389 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 8.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1553698627 |
-0.338 | 1.0 | N | 0.575 | 0.354 | 0.226586394389 | gnomAD-4.0.0 | 6.84694E-07 | None | None | None | None | I | None | 0 | 2.23974E-05 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1898 | likely_benign | 0.2002 | benign | -0.47 | Destabilizing | 0.974 | D | 0.509 | neutral | N | 0.456069995 | None | None | I |
| G/C | 0.6209 | likely_pathogenic | 0.6427 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.537329627 | None | None | I |
| G/D | 0.7582 | likely_pathogenic | 0.8751 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.471359685 | None | None | I |
| G/E | 0.7311 | likely_pathogenic | 0.8621 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/F | 0.839 | likely_pathogenic | 0.8687 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/H | 0.834 | likely_pathogenic | 0.8981 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/I | 0.4808 | ambiguous | 0.5343 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/K | 0.8965 | likely_pathogenic | 0.9623 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/L | 0.6742 | likely_pathogenic | 0.7098 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/M | 0.6658 | likely_pathogenic | 0.7018 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.4938 | ambiguous | 0.5574 | ambiguous | -0.597 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| G/P | 0.9335 | likely_pathogenic | 0.9651 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| G/Q | 0.736 | likely_pathogenic | 0.8275 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/R | 0.8555 | likely_pathogenic | 0.9402 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.477389564 | None | None | I |
| G/S | 0.1802 | likely_benign | 0.2051 | benign | -0.808 | Destabilizing | 1.0 | D | 0.575 | neutral | N | 0.458214789 | None | None | I |
| G/T | 0.2495 | likely_benign | 0.2892 | benign | -0.824 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/V | 0.3403 | ambiguous | 0.3804 | ambiguous | -0.325 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.480616293 | None | None | I |
| G/W | 0.8493 | likely_pathogenic | 0.9149 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/Y | 0.8074 | likely_pathogenic | 0.8518 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.799 | 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.