Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35639 | 107140;107141;107142 | chr2:178528836;178528835;178528834 | chr2:179393563;179393562;179393561 |
| N2AB | 33998 | 102217;102218;102219 | chr2:178528836;178528835;178528834 | chr2:179393563;179393562;179393561 |
| N2A | 33071 | 99436;99437;99438 | chr2:178528836;178528835;178528834 | chr2:179393563;179393562;179393561 |
| N2B | 26574 | 79945;79946;79947 | chr2:178528836;178528835;178528834 | chr2:179393563;179393562;179393561 |
| Novex-1 | 26699 | 80320;80321;80322 | chr2:178528836;178528835;178528834 | chr2:179393563;179393562;179393561 |
| Novex-2 | 26766 | 80521;80522;80523 | chr2:178528836;178528835;178528834 | chr2:179393563;179393562;179393561 |
| 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 | None | None | None | N | 0.19 | 0.148 | 0.448201132538 | gnomAD-4.0.0 | 1.59095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85755E-06 | 0 | 0 |
| V/I | rs557752216  |
None | None | N | 0.16 | 0.045 | 0.235038932564 | gnomAD-4.0.0 | 1.3683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 8.99397E-07 | 0 | 0 |
| V/L | rs557752216 |
-0.2 | None | N | 0.169 | 0.047 | 0.351180957027 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/L | rs557752216 |
-0.2 | None | N | 0.169 | 0.047 | 0.351180957027 | gnomAD-4.0.0 | 2.05245E-06 | None | None | None | None | N | None | 8.96111E-05 | 0 | 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 | 0.4207 | ambiguous | 0.4838 | ambiguous | -1.705 | Destabilizing | None | N | 0.19 | neutral | N | 0.45253345 | None | None | N |
| V/C | 0.8656 | likely_pathogenic | 0.9232 | pathogenic | -1.287 | Destabilizing | 0.859 | D | 0.557 | neutral | None | None | None | None | N |
| V/D | 0.7575 | likely_pathogenic | 0.8109 | pathogenic | -2.059 | Highly Destabilizing | 0.667 | D | 0.621 | neutral | None | None | None | None | N |
| V/E | 0.4388 | ambiguous | 0.5049 | ambiguous | -1.9 | Destabilizing | 0.175 | N | 0.581 | neutral | N | 0.452706809 | None | None | N |
| V/F | 0.1543 | likely_benign | 0.2021 | benign | -1.026 | Destabilizing | 0.001 | N | 0.398 | neutral | None | None | None | None | N |
| V/G | 0.5264 | ambiguous | 0.5996 | pathogenic | -2.17 | Highly Destabilizing | 0.096 | N | 0.596 | neutral | N | 0.453053525 | None | None | N |
| V/H | 0.7457 | likely_pathogenic | 0.8039 | pathogenic | -1.938 | Destabilizing | 0.958 | D | 0.593 | neutral | None | None | None | None | N |
| V/I | 0.0957 | likely_benign | 0.0994 | benign | -0.447 | Destabilizing | None | N | 0.16 | neutral | N | 0.433427615 | None | None | N |
| V/K | 0.5609 | ambiguous | 0.6188 | pathogenic | -1.432 | Destabilizing | 0.22 | N | 0.567 | neutral | None | None | None | None | N |
| V/L | 0.2212 | likely_benign | 0.2585 | benign | -0.447 | Destabilizing | None | N | 0.169 | neutral | N | 0.431347315 | None | None | N |
| V/M | 0.1315 | likely_benign | 0.1707 | benign | -0.521 | Destabilizing | 0.009 | N | 0.366 | neutral | None | None | None | None | N |
| V/N | 0.6028 | likely_pathogenic | 0.6742 | pathogenic | -1.603 | Destabilizing | 0.667 | D | 0.615 | neutral | None | None | None | None | N |
| V/P | 0.9936 | likely_pathogenic | 0.9958 | pathogenic | -0.836 | Destabilizing | 0.667 | D | 0.592 | neutral | None | None | None | None | N |
| V/Q | 0.4693 | ambiguous | 0.5406 | ambiguous | -1.524 | Destabilizing | 0.667 | D | 0.577 | neutral | None | None | None | None | N |
| V/R | 0.5144 | ambiguous | 0.5656 | pathogenic | -1.213 | Destabilizing | 0.497 | N | 0.625 | neutral | None | None | None | None | N |
| V/S | 0.4727 | ambiguous | 0.5372 | ambiguous | -2.19 | Highly Destabilizing | 0.124 | N | 0.536 | neutral | None | None | None | None | N |
| V/T | 0.4028 | ambiguous | 0.4403 | ambiguous | -1.904 | Destabilizing | 0.104 | N | 0.432 | neutral | None | None | None | None | N |
| V/W | 0.8284 | likely_pathogenic | 0.8877 | pathogenic | -1.502 | Destabilizing | 0.958 | D | 0.603 | neutral | None | None | None | None | N |
| V/Y | 0.5533 | ambiguous | 0.6327 | pathogenic | -1.097 | Destabilizing | 0.124 | N | 0.579 | 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.