Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35017 | 105274;105275;105276 | chr2:178531566;178531565;178531564 | chr2:179396293;179396292;179396291 |
| N2AB | 33376 | 100351;100352;100353 | chr2:178531566;178531565;178531564 | chr2:179396293;179396292;179396291 |
| N2A | 32449 | 97570;97571;97572 | chr2:178531566;178531565;178531564 | chr2:179396293;179396292;179396291 |
| N2B | 25952 | 78079;78080;78081 | chr2:178531566;178531565;178531564 | chr2:179396293;179396292;179396291 |
| Novex-1 | 26077 | 78454;78455;78456 | chr2:178531566;178531565;178531564 | chr2:179396293;179396292;179396291 |
| Novex-2 | 26144 | 78655;78656;78657 | chr2:178531566;178531565;178531564 | chr2:179396293;179396292;179396291 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs368779151  |
-0.542 | 0.64 | N | 0.509 | 0.154 | 0.241078983079 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.58607E-04 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs368779151 |
-0.542 | 0.64 | N | 0.509 | 0.154 | 0.241078983079 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.77812E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs368779151 |
-0.542 | 0.64 | N | 0.509 | 0.154 | 0.241078983079 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| T/A | rs368779151 |
-0.542 | 0.64 | N | 0.509 | 0.154 | 0.241078983079 | gnomAD-4.0.0 | 8.67418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.00535E-04 | None | 0 | 0 | 8.47547E-07 | 0 | 6.40184E-05 |
| T/I | None | None | 0.984 | N | 0.602 | 0.519 | 0.433379234345 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1169 | likely_benign | 0.1286 | benign | -0.646 | Destabilizing | 0.64 | D | 0.509 | neutral | N | 0.475032748 | None | None | N |
| T/C | 0.5214 | ambiguous | 0.6719 | pathogenic | -0.571 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| T/D | 0.6308 | likely_pathogenic | 0.7848 | pathogenic | -1.368 | Destabilizing | 0.919 | D | 0.611 | neutral | None | None | None | None | N |
| T/E | 0.4417 | ambiguous | 0.592 | pathogenic | -1.343 | Destabilizing | 0.919 | D | 0.613 | neutral | None | None | None | None | N |
| T/F | 0.3514 | ambiguous | 0.5914 | pathogenic | -0.691 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | N |
| T/G | 0.3812 | ambiguous | 0.5035 | ambiguous | -0.925 | Destabilizing | 0.851 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/H | 0.3082 | likely_benign | 0.4728 | ambiguous | -1.3 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| T/I | 0.2225 | likely_benign | 0.3939 | ambiguous | 0.015 | Stabilizing | 0.984 | D | 0.602 | neutral | N | 0.48207615 | None | None | N |
| T/K | 0.2462 | likely_benign | 0.3874 | ambiguous | -0.899 | Destabilizing | 0.919 | D | 0.612 | neutral | None | None | None | None | N |
| T/L | 0.1575 | likely_benign | 0.2659 | benign | 0.015 | Stabilizing | 0.919 | D | 0.608 | neutral | None | None | None | None | N |
| T/M | 0.1274 | likely_benign | 0.1894 | benign | 0.373 | Stabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| T/N | 0.1963 | likely_benign | 0.3232 | benign | -1.081 | Destabilizing | 0.896 | D | 0.589 | neutral | N | 0.502123349 | None | None | N |
| T/P | 0.6881 | likely_pathogenic | 0.7662 | pathogenic | -0.173 | Destabilizing | 0.984 | D | 0.603 | neutral | N | 0.494143162 | None | None | N |
| T/Q | 0.2696 | likely_benign | 0.3859 | ambiguous | -1.272 | Destabilizing | 0.988 | D | 0.647 | neutral | None | None | None | None | N |
| T/R | 0.184 | likely_benign | 0.2914 | benign | -0.637 | Destabilizing | 0.976 | D | 0.633 | neutral | None | None | None | None | N |
| T/S | 0.1259 | likely_benign | 0.1919 | benign | -1.154 | Destabilizing | 0.046 | N | 0.217 | neutral | N | 0.421718338 | None | None | N |
| T/V | 0.1718 | likely_benign | 0.2783 | benign | -0.173 | Destabilizing | 0.919 | D | 0.563 | neutral | None | None | None | None | N |
| T/W | 0.7314 | likely_pathogenic | 0.8619 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| T/Y | 0.4308 | ambiguous | 0.6233 | pathogenic | -0.447 | Destabilizing | 0.996 | D | 0.761 | deleterious | 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.