Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31327 | 94204;94205;94206 | chr2:178547647;178547646;178547645 | chr2:179412374;179412373;179412372 |
| N2AB | 29686 | 89281;89282;89283 | chr2:178547647;178547646;178547645 | chr2:179412374;179412373;179412372 |
| N2A | 28759 | 86500;86501;86502 | chr2:178547647;178547646;178547645 | chr2:179412374;179412373;179412372 |
| N2B | 22262 | 67009;67010;67011 | chr2:178547647;178547646;178547645 | chr2:179412374;179412373;179412372 |
| Novex-1 | 22387 | 67384;67385;67386 | chr2:178547647;178547646;178547645 | chr2:179412374;179412373;179412372 |
| Novex-2 | 22454 | 67585;67586;67587 | chr2:178547647;178547646;178547645 | chr2:179412374;179412373;179412372 |
| 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 | rs998693629  |
-1.425 | 0.183 | N | 0.341 | 0.074 | 0.368554958709 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs998693629 |
-1.425 | 0.183 | N | 0.341 | 0.074 | 0.368554958709 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs998693629 |
-1.425 | 0.183 | N | 0.341 | 0.074 | 0.368554958709 | gnomAD-4.0.0 | 5.07483E-06 | None | None | None | None | N | None | 3.49455E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40985E-06 | 0 | 3.40344E-05 |
| V/D | None | None | 0.213 | N | 0.553 | 0.218 | 0.533856487252 | 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 |
| V/L | None | None | 0.017 | N | 0.312 | 0.051 | 0.302793454619 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.277 | likely_benign | 0.2391 | benign | -1.605 | Destabilizing | 0.183 | N | 0.341 | neutral | N | 0.457798489 | None | None | N |
| V/C | 0.6695 | likely_pathogenic | 0.6323 | pathogenic | -1.33 | Destabilizing | 0.983 | D | 0.574 | neutral | None | None | None | None | N |
| V/D | 0.4542 | ambiguous | 0.4217 | ambiguous | -1.525 | Destabilizing | 0.213 | N | 0.553 | neutral | N | 0.489564191 | None | None | N |
| V/E | 0.3731 | ambiguous | 0.3182 | benign | -1.514 | Destabilizing | 0.01 | N | 0.5 | neutral | None | None | None | None | N |
| V/F | 0.1654 | likely_benign | 0.1574 | benign | -1.285 | Destabilizing | 0.655 | D | 0.583 | neutral | N | 0.508496668 | None | None | N |
| V/G | 0.3914 | ambiguous | 0.318 | benign | -1.925 | Destabilizing | 0.351 | N | 0.567 | neutral | N | 0.514691922 | None | None | N |
| V/H | 0.5544 | ambiguous | 0.5029 | ambiguous | -1.369 | Destabilizing | 0.836 | D | 0.628 | neutral | None | None | None | None | N |
| V/I | 0.0676 | likely_benign | 0.0671 | benign | -0.814 | Destabilizing | 0.002 | N | 0.231 | neutral | N | 0.446928135 | None | None | N |
| V/K | 0.5528 | ambiguous | 0.4911 | ambiguous | -1.197 | Destabilizing | 0.418 | N | 0.525 | neutral | None | None | None | None | N |
| V/L | 0.1543 | likely_benign | 0.1325 | benign | -0.814 | Destabilizing | 0.017 | N | 0.312 | neutral | N | 0.468591486 | None | None | N |
| V/M | 0.1201 | likely_benign | 0.1143 | benign | -0.74 | Destabilizing | 0.061 | N | 0.311 | neutral | None | None | None | None | N |
| V/N | 0.2628 | likely_benign | 0.245 | benign | -1.067 | Destabilizing | 0.01 | N | 0.556 | neutral | None | None | None | None | N |
| V/P | 0.9698 | likely_pathogenic | 0.9517 | pathogenic | -1.044 | Destabilizing | 0.94 | D | 0.605 | neutral | None | None | None | None | N |
| V/Q | 0.3941 | ambiguous | 0.3295 | benign | -1.264 | Destabilizing | 0.716 | D | 0.603 | neutral | None | None | None | None | N |
| V/R | 0.5166 | ambiguous | 0.4699 | ambiguous | -0.7 | Destabilizing | 0.716 | D | 0.615 | neutral | None | None | None | None | N |
| V/S | 0.2153 | likely_benign | 0.1903 | benign | -1.649 | Destabilizing | 0.129 | N | 0.501 | neutral | None | None | None | None | N |
| V/T | 0.1489 | likely_benign | 0.1407 | benign | -1.527 | Destabilizing | 0.004 | N | 0.229 | neutral | None | None | None | None | N |
| V/W | 0.796 | likely_pathogenic | 0.7686 | pathogenic | -1.43 | Destabilizing | 0.983 | D | 0.664 | neutral | None | None | None | None | N |
| V/Y | 0.4791 | ambiguous | 0.4491 | ambiguous | -1.133 | Destabilizing | 0.836 | D | 0.581 | 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.