Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30967 | 93124;93125;93126 | chr2:178548727;178548726;178548725 | chr2:179413454;179413453;179413452 |
| N2AB | 29326 | 88201;88202;88203 | chr2:178548727;178548726;178548725 | chr2:179413454;179413453;179413452 |
| N2A | 28399 | 85420;85421;85422 | chr2:178548727;178548726;178548725 | chr2:179413454;179413453;179413452 |
| N2B | 21902 | 65929;65930;65931 | chr2:178548727;178548726;178548725 | chr2:179413454;179413453;179413452 |
| Novex-1 | 22027 | 66304;66305;66306 | chr2:178548727;178548726;178548725 | chr2:179413454;179413453;179413452 |
| Novex-2 | 22094 | 66505;66506;66507 | chr2:178548727;178548726;178548725 | chr2:179413454;179413453;179413452 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1249072254  |
None | None | N | 0.195 | 0.093 | 0.209622950755 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| S/R | None | None | 0.171 | N | 0.378 | 0.179 | 0.233150807113 | gnomAD-4.0.0 | 3.4211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0812 | likely_benign | 0.0807 | benign | -0.161 | Destabilizing | 0.007 | N | 0.235 | neutral | None | None | None | None | N |
| S/C | 0.1131 | likely_benign | 0.111 | benign | -0.298 | Destabilizing | 0.828 | D | 0.386 | neutral | N | 0.494419423 | None | None | N |
| S/D | 0.295 | likely_benign | 0.309 | benign | 0.303 | Stabilizing | 0.038 | N | 0.221 | neutral | None | None | None | None | N |
| S/E | 0.3912 | ambiguous | 0.4045 | ambiguous | 0.202 | Stabilizing | 0.038 | N | 0.216 | neutral | None | None | None | None | N |
| S/F | 0.2131 | likely_benign | 0.2056 | benign | -0.888 | Destabilizing | 0.356 | N | 0.431 | neutral | None | None | None | None | N |
| S/G | 0.0815 | likely_benign | 0.0819 | benign | -0.224 | Destabilizing | None | N | 0.123 | neutral | N | 0.467066625 | None | None | N |
| S/H | 0.2321 | likely_benign | 0.2476 | benign | -0.61 | Destabilizing | 0.214 | N | 0.373 | neutral | None | None | None | None | N |
| S/I | 0.1407 | likely_benign | 0.1439 | benign | -0.131 | Destabilizing | 0.171 | N | 0.446 | neutral | D | 0.534214337 | None | None | N |
| S/K | 0.4476 | ambiguous | 0.4793 | ambiguous | -0.281 | Destabilizing | 0.038 | N | 0.235 | neutral | None | None | None | None | N |
| S/L | 0.0947 | likely_benign | 0.0937 | benign | -0.131 | Destabilizing | 0.038 | N | 0.4 | neutral | None | None | None | None | N |
| S/M | 0.1745 | likely_benign | 0.183 | benign | -0.096 | Destabilizing | 0.628 | D | 0.369 | neutral | None | None | None | None | N |
| S/N | 0.1026 | likely_benign | 0.1113 | benign | -0.065 | Destabilizing | None | N | 0.195 | neutral | N | 0.475934038 | None | None | N |
| S/P | 0.1608 | likely_benign | 0.1504 | benign | -0.115 | Destabilizing | None | N | 0.193 | neutral | None | None | None | None | N |
| S/Q | 0.3216 | likely_benign | 0.3397 | benign | -0.259 | Destabilizing | 0.214 | N | 0.315 | neutral | None | None | None | None | N |
| S/R | 0.3994 | ambiguous | 0.4212 | ambiguous | -0.096 | Destabilizing | 0.171 | N | 0.378 | neutral | N | 0.465506401 | None | None | N |
| S/T | 0.0782 | likely_benign | 0.081 | benign | -0.176 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.432895337 | None | None | N |
| S/V | 0.1548 | likely_benign | 0.1566 | benign | -0.115 | Destabilizing | 0.038 | N | 0.401 | neutral | None | None | None | None | N |
| S/W | 0.3465 | ambiguous | 0.33 | benign | -0.97 | Destabilizing | 0.864 | D | 0.477 | neutral | None | None | None | None | N |
| S/Y | 0.1799 | likely_benign | 0.1758 | benign | -0.641 | Destabilizing | 0.628 | D | 0.431 | 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.