Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19835 | 59728;59729;59730 | chr2:178592502;178592501;178592500 | chr2:179457229;179457228;179457227 |
| N2AB | 18194 | 54805;54806;54807 | chr2:178592502;178592501;178592500 | chr2:179457229;179457228;179457227 |
| N2A | 17267 | 52024;52025;52026 | chr2:178592502;178592501;178592500 | chr2:179457229;179457228;179457227 |
| N2B | 10770 | 32533;32534;32535 | chr2:178592502;178592501;178592500 | chr2:179457229;179457228;179457227 |
| Novex-1 | 10895 | 32908;32909;32910 | chr2:178592502;178592501;178592500 | chr2:179457229;179457228;179457227 |
| Novex-2 | 10962 | 33109;33110;33111 | chr2:178592502;178592501;178592500 | chr2:179457229;179457228;179457227 |
| 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/G | rs727504511  |
-2.461 | 0.722 | N | 0.67 | 0.598 | 0.853636989331 | gnomAD-2.1.1 | 6.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.2291E-04 | None | 0 | 0 | 0 |
| V/G | rs727504511 |
-2.461 | 0.722 | N | 0.67 | 0.598 | 0.853636989331 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.03391E-03 | 0 |
| V/G | rs727504511 |
-2.461 | 0.722 | N | 0.67 | 0.598 | 0.853636989331 | gnomAD-4.0.0 | 4.58652E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.12508E-04 | 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 | 0.3464 | ambiguous | 0.2983 | benign | -0.6 | Destabilizing | 0.349 | N | 0.417 | neutral | N | 0.492118927 | None | None | N |
| V/C | 0.808 | likely_pathogenic | 0.7551 | pathogenic | -0.677 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| V/D | 0.5545 | ambiguous | 0.5225 | ambiguous | -0.254 | Destabilizing | 0.923 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/E | 0.4477 | ambiguous | 0.4279 | ambiguous | -0.351 | Destabilizing | 0.901 | D | 0.659 | neutral | N | 0.502540634 | None | None | N |
| V/F | 0.3112 | likely_benign | 0.257 | benign | -0.718 | Destabilizing | 0.961 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/G | 0.4722 | ambiguous | 0.439 | ambiguous | -0.769 | Destabilizing | 0.722 | D | 0.67 | neutral | N | 0.513808034 | None | None | N |
| V/H | 0.7567 | likely_pathogenic | 0.713 | pathogenic | -0.356 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | N |
| V/I | 0.074 | likely_benign | 0.0646 | benign | -0.297 | Destabilizing | 0.587 | D | 0.511 | neutral | None | None | None | None | N |
| V/K | 0.5595 | ambiguous | 0.539 | ambiguous | -0.532 | Destabilizing | 0.923 | D | 0.664 | neutral | None | None | None | None | N |
| V/L | 0.3287 | likely_benign | 0.2668 | benign | -0.297 | Destabilizing | 0.349 | N | 0.434 | neutral | N | 0.510646831 | None | None | N |
| V/M | 0.1857 | likely_benign | 0.1498 | benign | -0.322 | Destabilizing | 0.949 | D | 0.523 | neutral | N | 0.508550676 | None | None | N |
| V/N | 0.3849 | ambiguous | 0.3126 | benign | -0.284 | Destabilizing | 0.923 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/P | 0.8839 | likely_pathogenic | 0.8767 | pathogenic | -0.362 | Destabilizing | 0.961 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/Q | 0.5132 | ambiguous | 0.4784 | ambiguous | -0.504 | Destabilizing | 0.961 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/R | 0.5377 | ambiguous | 0.5183 | ambiguous | -0.038 | Destabilizing | 0.923 | D | 0.749 | deleterious | None | None | None | None | N |
| V/S | 0.3797 | ambiguous | 0.3148 | benign | -0.694 | Destabilizing | 0.633 | D | 0.598 | neutral | None | None | None | None | N |
| V/T | 0.2202 | likely_benign | 0.1788 | benign | -0.683 | Destabilizing | 0.005 | N | 0.185 | neutral | None | None | None | None | N |
| V/W | 0.9212 | likely_pathogenic | 0.9045 | pathogenic | -0.813 | Destabilizing | 0.996 | D | 0.766 | deleterious | None | None | None | None | N |
| V/Y | 0.7321 | likely_pathogenic | 0.6781 | pathogenic | -0.509 | Destabilizing | 0.987 | D | 0.689 | prob.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.