Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31331 | 94216;94217;94218 | chr2:178547635;178547634;178547633 | chr2:179412362;179412361;179412360 |
| N2AB | 29690 | 89293;89294;89295 | chr2:178547635;178547634;178547633 | chr2:179412362;179412361;179412360 |
| N2A | 28763 | 86512;86513;86514 | chr2:178547635;178547634;178547633 | chr2:179412362;179412361;179412360 |
| N2B | 22266 | 67021;67022;67023 | chr2:178547635;178547634;178547633 | chr2:179412362;179412361;179412360 |
| Novex-1 | 22391 | 67396;67397;67398 | chr2:178547635;178547634;178547633 | chr2:179412362;179412361;179412360 |
| Novex-2 | 22458 | 67597;67598;67599 | chr2:178547635;178547634;178547633 | chr2:179412362;179412361;179412360 |
| 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/E | None | None | None | N | 0.251 | 0.066 | 0.0884992946249 | gnomAD-4.0.0 | 2.73676E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59785E-06 | 0 | 0 |
| G/R | rs377660595  |
-0.476 | 0.007 | N | 0.367 | 0.057 | 0.12205267543 | gnomAD-2.1.1 | 1.8091E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.43791E-03 | None | 0 | 8.89E-06 | 0 |
| G/R | rs377660595 |
-0.476 | 0.007 | N | 0.367 | 0.057 | 0.12205267543 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 8.2713E-04 | 0 |
| G/R | rs377660595 |
-0.476 | 0.007 | N | 0.367 | 0.057 | 0.12205267543 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/R | rs377660595 |
-0.476 | 0.007 | N | 0.367 | 0.057 | 0.12205267543 | gnomAD-4.0.0 | 9.41826E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22916E-05 | None | 0 | 0 | 4.23793E-05 | 1.08684E-03 | 3.20102E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0581 | likely_benign | 0.0667 | benign | -0.528 | Destabilizing | None | N | 0.066 | neutral | N | 0.396093883 | None | None | N |
| G/C | 0.1305 | likely_benign | 0.1466 | benign | -0.939 | Destabilizing | 0.245 | N | 0.476 | neutral | None | None | None | None | N |
| G/D | 0.1085 | likely_benign | 0.1198 | benign | -0.936 | Destabilizing | 0.004 | N | 0.312 | neutral | None | None | None | None | N |
| G/E | 0.0813 | likely_benign | 0.0955 | benign | -0.906 | Destabilizing | None | N | 0.251 | neutral | N | 0.366096263 | None | None | N |
| G/F | 0.3042 | likely_benign | 0.3784 | ambiguous | -0.781 | Destabilizing | 0.245 | N | 0.557 | neutral | None | None | None | None | N |
| G/H | 0.1723 | likely_benign | 0.2188 | benign | -1.395 | Destabilizing | 0.138 | N | 0.467 | neutral | None | None | None | None | N |
| G/I | 0.1465 | likely_benign | 0.1689 | benign | 0.139 | Stabilizing | 0.022 | N | 0.487 | neutral | None | None | None | None | N |
| G/K | 0.1114 | likely_benign | 0.1334 | benign | -0.953 | Destabilizing | None | N | 0.28 | neutral | None | None | None | None | N |
| G/L | 0.1257 | likely_benign | 0.1598 | benign | 0.139 | Stabilizing | 0.009 | N | 0.357 | neutral | None | None | None | None | N |
| G/M | 0.1577 | likely_benign | 0.199 | benign | -0.072 | Destabilizing | 0.245 | N | 0.482 | neutral | None | None | None | None | N |
| G/N | 0.1156 | likely_benign | 0.134 | benign | -0.843 | Destabilizing | 0.009 | N | 0.281 | neutral | None | None | None | None | N |
| G/P | 0.5574 | ambiguous | 0.595 | pathogenic | -0.038 | Destabilizing | 0.044 | N | 0.423 | neutral | None | None | None | None | N |
| G/Q | 0.1075 | likely_benign | 0.1371 | benign | -0.852 | Destabilizing | None | N | 0.304 | neutral | None | None | None | None | N |
| G/R | 0.1103 | likely_benign | 0.1289 | benign | -0.913 | Destabilizing | 0.007 | N | 0.367 | neutral | N | 0.407772314 | None | None | N |
| G/S | 0.0704 | likely_benign | 0.0785 | benign | -1.198 | Destabilizing | None | N | 0.069 | neutral | None | None | None | None | N |
| G/T | 0.0762 | likely_benign | 0.0878 | benign | -1.05 | Destabilizing | None | N | 0.247 | neutral | None | None | None | None | N |
| G/V | 0.1061 | likely_benign | 0.121 | benign | -0.038 | Destabilizing | 0.007 | N | 0.373 | neutral | N | 0.422472407 | None | None | N |
| G/W | 0.2543 | likely_benign | 0.3045 | benign | -1.299 | Destabilizing | 0.788 | D | 0.463 | neutral | None | None | None | None | N |
| G/Y | 0.2364 | likely_benign | 0.2846 | benign | -0.749 | Destabilizing | 0.245 | N | 0.562 | 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.