Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30420 | 91483;91484;91485 | chr2:178551642;178551641;178551640 | chr2:179416369;179416368;179416367 |
| N2AB | 28779 | 86560;86561;86562 | chr2:178551642;178551641;178551640 | chr2:179416369;179416368;179416367 |
| N2A | 27852 | 83779;83780;83781 | chr2:178551642;178551641;178551640 | chr2:179416369;179416368;179416367 |
| N2B | 21355 | 64288;64289;64290 | chr2:178551642;178551641;178551640 | chr2:179416369;179416368;179416367 |
| Novex-1 | 21480 | 64663;64664;64665 | chr2:178551642;178551641;178551640 | chr2:179416369;179416368;179416367 |
| Novex-2 | 21547 | 64864;64865;64866 | chr2:178551642;178551641;178551640 | chr2:179416369;179416368;179416367 |
| 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 | rs779547880  |
-0.768 | 0.163 | N | 0.345 | 0.237 | 0.339074221408 | gnomAD-2.1.1 | 4.41E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.97E-05 | None | 0 | 0 | 0 |
| V/A | rs779547880 |
-0.768 | 0.163 | N | 0.345 | 0.237 | 0.339074221408 | gnomAD-4.0.0 | 1.68418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.55739E-05 | 0 |
| V/D | rs779547880 |
-0.097 | 0.771 | N | 0.828 | 0.351 | 0.695650398914 | gnomAD-2.1.1 | 4.41E-06 | None | None | None | None | N | None | 0 | 3.35E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs779547880 |
-0.097 | 0.771 | N | 0.828 | 0.351 | 0.695650398914 | gnomAD-4.0.0 | 1.68418E-06 | None | None | None | None | N | None | 0 | 2.6077E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | None | None | 0.624 | N | 0.525 | 0.124 | 0.585382094262 | gnomAD-4.0.0 | 2.40095E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62535E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3571 | ambiguous | 0.3133 | benign | -1.164 | Destabilizing | 0.163 | N | 0.345 | neutral | N | 0.429510236 | None | None | N |
| V/C | 0.8417 | likely_pathogenic | 0.7885 | pathogenic | -1.031 | Destabilizing | 0.981 | D | 0.537 | neutral | None | None | None | None | N |
| V/D | 0.9068 | likely_pathogenic | 0.8614 | pathogenic | -0.748 | Destabilizing | 0.771 | D | 0.828 | deleterious | N | 0.44878943 | None | None | N |
| V/E | 0.76 | likely_pathogenic | 0.6757 | pathogenic | -0.811 | Destabilizing | 0.817 | D | 0.801 | deleterious | None | None | None | None | N |
| V/F | 0.3646 | ambiguous | 0.2832 | benign | -1.186 | Destabilizing | 0.624 | D | 0.525 | neutral | N | 0.462873448 | None | None | N |
| V/G | 0.5788 | likely_pathogenic | 0.5151 | ambiguous | -1.375 | Destabilizing | 0.771 | D | 0.797 | deleterious | N | 0.422853623 | None | None | N |
| V/H | 0.8831 | likely_pathogenic | 0.8166 | pathogenic | -0.836 | Destabilizing | 0.981 | D | 0.821 | deleterious | None | None | None | None | N |
| V/I | 0.0873 | likely_benign | 0.0803 | benign | -0.722 | Destabilizing | 0.001 | N | 0.155 | neutral | N | 0.407673526 | None | None | N |
| V/K | 0.7332 | likely_pathogenic | 0.6449 | pathogenic | -0.782 | Destabilizing | 0.817 | D | 0.813 | deleterious | None | None | None | None | N |
| V/L | 0.3197 | likely_benign | 0.247 | benign | -0.722 | Destabilizing | 0.014 | N | 0.349 | neutral | N | 0.361074445 | None | None | N |
| V/M | 0.2355 | likely_benign | 0.1911 | benign | -0.589 | Destabilizing | 0.687 | D | 0.474 | neutral | None | None | None | None | N |
| V/N | 0.7296 | likely_pathogenic | 0.6429 | pathogenic | -0.601 | Destabilizing | 0.931 | D | 0.827 | deleterious | None | None | None | None | N |
| V/P | 0.9703 | likely_pathogenic | 0.9671 | pathogenic | -0.835 | Destabilizing | 0.931 | D | 0.793 | deleterious | None | None | None | None | N |
| V/Q | 0.6225 | likely_pathogenic | 0.5348 | ambiguous | -0.866 | Destabilizing | 0.931 | D | 0.775 | deleterious | None | None | None | None | N |
| V/R | 0.6463 | likely_pathogenic | 0.5501 | ambiguous | -0.246 | Destabilizing | 0.817 | D | 0.801 | deleterious | None | None | None | None | N |
| V/S | 0.509 | ambiguous | 0.4431 | ambiguous | -1.114 | Destabilizing | 0.817 | D | 0.574 | neutral | None | None | None | None | N |
| V/T | 0.4002 | ambiguous | 0.3623 | ambiguous | -1.073 | Destabilizing | 0.385 | N | 0.493 | neutral | None | None | None | None | N |
| V/W | 0.9561 | likely_pathogenic | 0.9305 | pathogenic | -1.232 | Destabilizing | 0.981 | D | 0.756 | deleterious | None | None | None | None | N |
| V/Y | 0.8314 | likely_pathogenic | 0.7477 | pathogenic | -0.932 | Destabilizing | 0.817 | D | 0.487 | 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.