Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9707 | 29344;29345;29346 | chr2:178706877;178706876;178706875 | chr2:179571604;179571603;179571602 |
| N2AB | 9390 | 28393;28394;28395 | chr2:178706877;178706876;178706875 | chr2:179571604;179571603;179571602 |
| N2A | 8463 | 25612;25613;25614 | chr2:178706877;178706876;178706875 | chr2:179571604;179571603;179571602 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs1484487083  |
-1.077 | 0.794 | None | 0.455 | 0.376 | 0.789950293674 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.32E-05 | None | 0 | 0 | 0 |
| I/N | rs1484487083 |
-1.077 | 0.794 | None | 0.455 | 0.376 | 0.789950293674 | gnomAD-4.0.0 | 6.84899E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16428E-05 | 0 |
| I/S | None | None | 0.213 | None | 0.39 | 0.266 | 0.69243939542 | gnomAD-4.0.0 | 6.84899E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00012E-07 | 0 | 0 |
| I/T | None | None | 0.351 | None | 0.351 | 0.191 | 0.656945041481 | gnomAD-4.0.0 | 6.84899E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65832E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6608 | likely_pathogenic | 0.4362 | ambiguous | -1.659 | Destabilizing | 0.004 | N | 0.119 | neutral | None | None | None | None | I |
| I/C | 0.8389 | likely_pathogenic | 0.6774 | pathogenic | -0.942 | Destabilizing | 0.005 | N | 0.175 | neutral | None | None | None | None | I |
| I/D | 0.9658 | likely_pathogenic | 0.8541 | pathogenic | -0.835 | Destabilizing | 0.836 | D | 0.47 | neutral | None | None | None | None | I |
| I/E | 0.8642 | likely_pathogenic | 0.6635 | pathogenic | -0.734 | Destabilizing | 0.836 | D | 0.484 | neutral | None | None | None | None | I |
| I/F | 0.4101 | ambiguous | 0.2011 | benign | -0.91 | Destabilizing | 0.655 | D | 0.359 | neutral | None | None | None | None | I |
| I/G | 0.9296 | likely_pathogenic | 0.7621 | pathogenic | -2.078 | Highly Destabilizing | 0.418 | N | 0.42 | neutral | None | None | None | None | I |
| I/H | 0.8683 | likely_pathogenic | 0.6234 | pathogenic | -1.295 | Destabilizing | 0.983 | D | 0.414 | neutral | None | None | None | None | I |
| I/K | 0.6809 | likely_pathogenic | 0.4168 | ambiguous | -1.035 | Destabilizing | 0.418 | N | 0.467 | neutral | None | None | None | None | I |
| I/L | 0.1476 | likely_benign | 0.0976 | benign | -0.538 | Destabilizing | 0.017 | N | 0.202 | neutral | None | None | None | None | I |
| I/M | 0.1621 | likely_benign | 0.0953 | benign | -0.468 | Destabilizing | 0.017 | N | 0.215 | neutral | None | None | None | None | I |
| I/N | 0.7404 | likely_pathogenic | 0.4376 | ambiguous | -1.019 | Destabilizing | 0.794 | D | 0.455 | neutral | None | None | None | None | I |
| I/P | 0.9846 | likely_pathogenic | 0.9387 | pathogenic | -0.882 | Destabilizing | 0.836 | D | 0.469 | neutral | None | None | None | None | I |
| I/Q | 0.7244 | likely_pathogenic | 0.459 | ambiguous | -1.022 | Destabilizing | 0.836 | D | 0.455 | neutral | None | None | None | None | I |
| I/R | 0.6241 | likely_pathogenic | 0.3348 | benign | -0.669 | Destabilizing | 0.716 | D | 0.465 | neutral | None | None | None | None | I |
| I/S | 0.6913 | likely_pathogenic | 0.409 | ambiguous | -1.757 | Destabilizing | 0.213 | N | 0.39 | neutral | None | None | None | None | I |
| I/T | 0.4873 | ambiguous | 0.28 | benign | -1.52 | Destabilizing | 0.351 | N | 0.351 | neutral | None | None | None | None | I |
| I/V | 0.1092 | likely_benign | 0.0871 | benign | -0.882 | Destabilizing | 0.003 | N | 0.106 | neutral | None | None | None | None | I |
| I/W | 0.947 | likely_pathogenic | 0.8067 | pathogenic | -1.087 | Destabilizing | 0.983 | D | 0.455 | neutral | None | None | None | None | I |
| I/Y | 0.8478 | likely_pathogenic | 0.6077 | pathogenic | -0.802 | Destabilizing | 0.836 | D | 0.383 | 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.