Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5369 | 16330;16331;16332 | chr2:178733071;178733070;178733069 | chr2:179597798;179597797;179597796 |
| N2AB | 5052 | 15379;15380;15381 | chr2:178733071;178733070;178733069 | chr2:179597798;179597797;179597796 |
| N2A | 4125 | 12598;12599;12600 | chr2:178733071;178733070;178733069 | chr2:179597798;179597797;179597796 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1407785236  |
-1.456 | None | N | 0.204 | 0.163 | 0.457197642564 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/A | rs1407785236 |
-1.456 | None | N | 0.204 | 0.163 | 0.457197642564 | gnomAD-4.0.0 | 3.4302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50702E-06 | 0 | 0 |
| V/F | None | None | 0.317 | N | 0.453 | 0.166 | 0.536521311054 | gnomAD-4.0.0 | 6.86035E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16596E-05 | 0 |
| V/I | rs780410052 |
-0.616 | None | N | 0.221 | 0.113 | 0.222439326576 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| V/I | rs780410052 |
-0.616 | None | N | 0.221 | 0.113 | 0.222439326576 | gnomAD-4.0.0 | 3.43017E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70417E-06 | 1.16596E-05 | 1.66163E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1293 | likely_benign | 0.1159 | benign | -0.598 | Destabilizing | None | N | 0.204 | neutral | N | 0.450286232 | None | None | N |
| V/C | 0.7015 | likely_pathogenic | 0.6709 | pathogenic | -0.666 | Destabilizing | 0.824 | D | 0.453 | neutral | None | None | None | None | N |
| V/D | 0.286 | likely_benign | 0.2719 | benign | -0.273 | Destabilizing | 0.062 | N | 0.477 | neutral | N | 0.463370172 | None | None | N |
| V/E | 0.2304 | likely_benign | 0.2342 | benign | -0.382 | Destabilizing | 0.149 | N | 0.465 | neutral | None | None | None | None | N |
| V/F | 0.1268 | likely_benign | 0.12 | benign | -0.723 | Destabilizing | 0.317 | N | 0.453 | neutral | N | 0.488113901 | None | None | N |
| V/G | 0.1957 | likely_benign | 0.1831 | benign | -0.749 | Destabilizing | 0.062 | N | 0.484 | neutral | N | 0.511124047 | None | None | N |
| V/H | 0.4217 | ambiguous | 0.4066 | ambiguous | -0.24 | Destabilizing | 0.824 | D | 0.527 | neutral | None | None | None | None | N |
| V/I | 0.0715 | likely_benign | 0.0699 | benign | -0.348 | Destabilizing | None | N | 0.221 | neutral | N | 0.44944087 | None | None | N |
| V/K | 0.253 | likely_benign | 0.251 | benign | -0.495 | Destabilizing | 0.149 | N | 0.46 | neutral | None | None | None | None | N |
| V/L | 0.1381 | likely_benign | 0.133 | benign | -0.348 | Destabilizing | 0.009 | N | 0.331 | neutral | N | 0.442090823 | None | None | N |
| V/M | 0.1091 | likely_benign | 0.1042 | benign | -0.358 | Destabilizing | 0.38 | N | 0.466 | neutral | None | None | None | None | N |
| V/N | 0.204 | likely_benign | 0.1877 | benign | -0.238 | Destabilizing | 0.002 | N | 0.324 | neutral | None | None | None | None | N |
| V/P | 0.341 | ambiguous | 0.3155 | benign | -0.396 | Destabilizing | 0.555 | D | 0.505 | neutral | None | None | None | None | N |
| V/Q | 0.2439 | likely_benign | 0.2442 | benign | -0.495 | Destabilizing | 0.555 | D | 0.516 | neutral | None | None | None | None | N |
| V/R | 0.2008 | likely_benign | 0.201 | benign | 0.057 | Stabilizing | 0.555 | D | 0.522 | neutral | None | None | None | None | N |
| V/S | 0.1716 | likely_benign | 0.1574 | benign | -0.644 | Destabilizing | 0.081 | N | 0.444 | neutral | None | None | None | None | N |
| V/T | 0.1317 | likely_benign | 0.1214 | benign | -0.651 | Destabilizing | 0.149 | N | 0.363 | neutral | None | None | None | None | N |
| V/W | 0.6859 | likely_pathogenic | 0.6755 | pathogenic | -0.779 | Destabilizing | 0.935 | D | 0.587 | neutral | None | None | None | None | N |
| V/Y | 0.4306 | ambiguous | 0.4155 | ambiguous | -0.493 | Destabilizing | 0.555 | D | 0.462 | 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.