Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28937 | 87034;87035;87036 | chr2:178559323;178559322;178559321 | chr2:179424050;179424049;179424048 |
| N2AB | 27296 | 82111;82112;82113 | chr2:178559323;178559322;178559321 | chr2:179424050;179424049;179424048 |
| N2A | 26369 | 79330;79331;79332 | chr2:178559323;178559322;178559321 | chr2:179424050;179424049;179424048 |
| N2B | 19872 | 59839;59840;59841 | chr2:178559323;178559322;178559321 | chr2:179424050;179424049;179424048 |
| Novex-1 | 19997 | 60214;60215;60216 | chr2:178559323;178559322;178559321 | chr2:179424050;179424049;179424048 |
| Novex-2 | 20064 | 60415;60416;60417 | chr2:178559323;178559322;178559321 | chr2:179424050;179424049;179424048 |
| 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/I | rs794727453  |
None | None | N | 0.194 | 0.084 | 0.41337360676 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20633E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs794727453 |
None | None | N | 0.194 | 0.084 | 0.41337360676 | gnomAD-4.0.0 | 7.9363E-06 | None | None | None | None | N | None | 1.0376E-04 | 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 | 0.2469 | likely_benign | 0.2146 | benign | -1.342 | Destabilizing | 0.088 | N | 0.464 | neutral | N | 0.490239373 | None | None | N |
| V/C | 0.6184 | likely_pathogenic | 0.6011 | pathogenic | -0.639 | Destabilizing | 0.981 | D | 0.595 | neutral | None | None | None | None | N |
| V/D | 0.6631 | likely_pathogenic | 0.6478 | pathogenic | -1.67 | Destabilizing | 0.842 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/E | 0.4405 | ambiguous | 0.4334 | ambiguous | -1.448 | Destabilizing | 0.395 | N | 0.617 | neutral | N | 0.490999841 | None | None | N |
| V/F | 0.1773 | likely_benign | 0.1762 | benign | -0.764 | Destabilizing | 0.801 | D | 0.589 | neutral | None | None | None | None | N |
| V/G | 0.3323 | likely_benign | 0.3251 | benign | -1.825 | Destabilizing | 0.609 | D | 0.686 | prob.delet. | N | 0.49150682 | None | None | N |
| V/H | 0.6298 | likely_pathogenic | 0.62 | pathogenic | -1.454 | Destabilizing | 0.985 | D | 0.749 | deleterious | None | None | None | None | N |
| V/I | 0.0647 | likely_benign | 0.0663 | benign | -0.007 | Destabilizing | None | N | 0.194 | neutral | N | 0.493599 | None | None | N |
| V/K | 0.4081 | ambiguous | 0.4173 | ambiguous | -0.952 | Destabilizing | 0.654 | D | 0.633 | neutral | None | None | None | None | N |
| V/L | 0.1862 | likely_benign | 0.1809 | benign | -0.007 | Destabilizing | 0.005 | N | 0.462 | neutral | N | 0.510221891 | None | None | N |
| V/M | 0.1215 | likely_benign | 0.1153 | benign | -0.015 | Destabilizing | 0.742 | D | 0.51 | neutral | None | None | None | None | N |
| V/N | 0.4349 | ambiguous | 0.4203 | ambiguous | -1.352 | Destabilizing | 0.219 | N | 0.728 | deleterious | None | None | None | None | N |
| V/P | 0.9131 | likely_pathogenic | 0.9187 | pathogenic | -0.425 | Destabilizing | 0.363 | N | 0.615 | neutral | None | None | None | None | N |
| V/Q | 0.3703 | ambiguous | 0.3619 | ambiguous | -1.156 | Destabilizing | 0.731 | D | 0.669 | prob.neutral | None | None | None | None | N |
| V/R | 0.3873 | ambiguous | 0.3908 | ambiguous | -0.948 | Destabilizing | 0.801 | D | 0.755 | deleterious | None | None | None | None | N |
| V/S | 0.3219 | likely_benign | 0.2927 | benign | -1.917 | Destabilizing | 0.237 | N | 0.583 | neutral | None | None | None | None | N |
| V/T | 0.1932 | likely_benign | 0.1596 | benign | -1.547 | Destabilizing | 0.001 | N | 0.16 | neutral | None | None | None | None | N |
| V/W | 0.7823 | likely_pathogenic | 0.7798 | pathogenic | -1.222 | Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | N |
| V/Y | 0.531 | ambiguous | 0.5407 | ambiguous | -0.742 | Destabilizing | 0.891 | D | 0.61 | 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.