Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9293 | 28102;28103;28104 | chr2:178711953;178711952;178711951 | chr2:179576680;179576679;179576678 |
| N2AB | 8976 | 27151;27152;27153 | chr2:178711953;178711952;178711951 | chr2:179576680;179576679;179576678 |
| N2A | 8049 | 24370;24371;24372 | chr2:178711953;178711952;178711951 | chr2:179576680;179576679;179576678 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.497 | N | 0.476 | 0.289 | 0.442775082573 | gnomAD-4.0.0 | 6.92585E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20937E-05 | 0 |
| T/N | rs2076722601  |
None | 0.004 | N | 0.23 | 0.133 | 0.323615622048 | 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 |
| T/N | rs2076722601 |
None | 0.004 | N | 0.23 | 0.133 | 0.323615622048 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 0 | 0 |
| T/S | None | None | None | N | 0.117 | 0.117 | 0.191931220699 | gnomAD-4.0.0 | 6.92584E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07222E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0786 | likely_benign | 0.1037 | benign | -0.816 | Destabilizing | 0.055 | N | 0.415 | neutral | D | 0.532539469 | None | None | I |
| T/C | 0.3831 | ambiguous | 0.4895 | ambiguous | -0.544 | Destabilizing | 0.909 | D | 0.517 | neutral | None | None | None | None | I |
| T/D | 0.277 | likely_benign | 0.3439 | ambiguous | -0.026 | Destabilizing | 0.157 | N | 0.429 | neutral | None | None | None | None | I |
| T/E | 0.2121 | likely_benign | 0.2521 | benign | -0.022 | Destabilizing | 0.157 | N | 0.422 | neutral | None | None | None | None | I |
| T/F | 0.1563 | likely_benign | 0.201 | benign | -0.848 | Destabilizing | 0.726 | D | 0.591 | neutral | None | None | None | None | I |
| T/G | 0.2745 | likely_benign | 0.3301 | benign | -1.076 | Destabilizing | 0.072 | N | 0.507 | neutral | None | None | None | None | I |
| T/H | 0.1648 | likely_benign | 0.2009 | benign | -1.32 | Destabilizing | 0.726 | D | 0.578 | neutral | None | None | None | None | I |
| T/I | 0.1098 | likely_benign | 0.1458 | benign | -0.217 | Destabilizing | 0.497 | N | 0.476 | neutral | N | 0.519842318 | None | None | I |
| T/K | 0.1643 | likely_benign | 0.2048 | benign | -0.656 | Destabilizing | 0.157 | N | 0.413 | neutral | None | None | None | None | I |
| T/L | 0.0788 | likely_benign | 0.0946 | benign | -0.217 | Destabilizing | 0.272 | N | 0.425 | neutral | None | None | None | None | I |
| T/M | 0.0769 | likely_benign | 0.1071 | benign | -0.003 | Destabilizing | 0.968 | D | 0.502 | neutral | None | None | None | None | I |
| T/N | 0.1043 | likely_benign | 0.1329 | benign | -0.58 | Destabilizing | 0.004 | N | 0.23 | neutral | N | 0.50090984 | None | None | I |
| T/P | 0.3195 | likely_benign | 0.5568 | ambiguous | -0.384 | Destabilizing | 0.497 | N | 0.469 | neutral | D | 0.533363412 | None | None | I |
| T/Q | 0.1796 | likely_benign | 0.2171 | benign | -0.743 | Destabilizing | 0.567 | D | 0.5 | neutral | None | None | None | None | I |
| T/R | 0.1175 | likely_benign | 0.1573 | benign | -0.453 | Destabilizing | 0.567 | D | 0.465 | neutral | None | None | None | None | I |
| T/S | 0.0986 | likely_benign | 0.1163 | benign | -0.908 | Destabilizing | None | N | 0.117 | neutral | N | 0.507931813 | None | None | I |
| T/V | 0.1004 | likely_benign | 0.1231 | benign | -0.384 | Destabilizing | 0.272 | N | 0.362 | neutral | None | None | None | None | I |
| T/W | 0.4355 | ambiguous | 0.564 | pathogenic | -0.753 | Destabilizing | 0.968 | D | 0.691 | prob.neutral | None | None | None | None | I |
| T/Y | 0.1724 | likely_benign | 0.2383 | benign | -0.525 | Destabilizing | 0.726 | D | 0.595 | neutral | 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.