Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28986 | 87181;87182;87183 | chr2:178558503;178558502;178558501 | chr2:179423230;179423229;179423228 |
| N2AB | 27345 | 82258;82259;82260 | chr2:178558503;178558502;178558501 | chr2:179423230;179423229;179423228 |
| N2A | 26418 | 79477;79478;79479 | chr2:178558503;178558502;178558501 | chr2:179423230;179423229;179423228 |
| N2B | 19921 | 59986;59987;59988 | chr2:178558503;178558502;178558501 | chr2:179423230;179423229;179423228 |
| Novex-1 | 20046 | 60361;60362;60363 | chr2:178558503;178558502;178558501 | chr2:179423230;179423229;179423228 |
| Novex-2 | 20113 | 60562;60563;60564 | chr2:178558503;178558502;178558501 | chr2:179423230;179423229;179423228 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs777381679  |
-0.471 | 0.999 | N | 0.344 | 0.183 | 0.337621943819 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| Q/H | rs777381679 |
-0.471 | 0.999 | N | 0.344 | 0.183 | 0.337621943819 | gnomAD-4.0.0 | 2.05263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47802E-05 | 0 |
| Q/R | None | None | 0.961 | N | 0.334 | 0.242 | 0.228597637076 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2471 | likely_benign | 0.276 | benign | -0.312 | Destabilizing | 0.985 | D | 0.336 | neutral | None | None | None | None | N |
| Q/C | 0.5242 | ambiguous | 0.5919 | pathogenic | 0.147 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| Q/D | 0.3774 | ambiguous | 0.4187 | ambiguous | -0.024 | Destabilizing | 0.993 | D | 0.32 | neutral | None | None | None | None | N |
| Q/E | 0.0957 | likely_benign | 0.0971 | benign | -0.04 | Destabilizing | 0.953 | D | 0.342 | neutral | N | 0.442015386 | None | None | N |
| Q/F | 0.675 | likely_pathogenic | 0.7245 | pathogenic | -0.4 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| Q/G | 0.2174 | likely_benign | 0.2435 | benign | -0.528 | Destabilizing | 0.993 | D | 0.403 | neutral | None | None | None | None | N |
| Q/H | 0.1998 | likely_benign | 0.2396 | benign | -0.39 | Destabilizing | 0.999 | D | 0.344 | neutral | N | 0.491598845 | None | None | N |
| Q/I | 0.4375 | ambiguous | 0.478 | ambiguous | 0.178 | Stabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| Q/K | 0.0947 | likely_benign | 0.0958 | benign | -0.05 | Destabilizing | 0.4 | N | 0.311 | neutral | N | 0.45373389 | None | None | N |
| Q/L | 0.1582 | likely_benign | 0.1769 | benign | 0.178 | Stabilizing | 0.99 | D | 0.403 | neutral | N | 0.479997771 | None | None | N |
| Q/M | 0.364 | ambiguous | 0.3904 | ambiguous | 0.438 | Stabilizing | 0.999 | D | 0.347 | neutral | None | None | None | None | N |
| Q/N | 0.2645 | likely_benign | 0.2833 | benign | -0.362 | Destabilizing | 0.993 | D | 0.327 | neutral | None | None | None | None | N |
| Q/P | 0.3601 | ambiguous | 0.4505 | ambiguous | 0.044 | Stabilizing | 0.999 | D | 0.383 | neutral | N | 0.461969371 | None | None | N |
| Q/R | 0.1027 | likely_benign | 0.1138 | benign | 0.119 | Stabilizing | 0.961 | D | 0.334 | neutral | N | 0.447885353 | None | None | N |
| Q/S | 0.2443 | likely_benign | 0.2704 | benign | -0.377 | Destabilizing | 0.985 | D | 0.285 | neutral | None | None | None | None | N |
| Q/T | 0.2334 | likely_benign | 0.2448 | benign | -0.233 | Destabilizing | 0.993 | D | 0.346 | neutral | None | None | None | None | N |
| Q/V | 0.2798 | likely_benign | 0.3176 | benign | 0.044 | Stabilizing | 0.998 | D | 0.439 | neutral | None | None | None | None | N |
| Q/W | 0.5069 | ambiguous | 0.5958 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| Q/Y | 0.4479 | ambiguous | 0.5196 | ambiguous | -0.114 | Destabilizing | 0.999 | D | 0.379 | 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.