Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9434 | 28525;28526;28527 | chr2:178710797;178710796;178710795 | chr2:179575524;179575523;179575522 |
| N2AB | 9117 | 27574;27575;27576 | chr2:178710797;178710796;178710795 | chr2:179575524;179575523;179575522 |
| N2A | 8190 | 24793;24794;24795 | chr2:178710797;178710796;178710795 | chr2:179575524;179575523;179575522 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/I | rs751432055  |
-0.065 | 0.065 | None | 0.43 | 0.079 | 0.17948927462 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| S/I | rs751432055 |
-0.065 | 0.065 | None | 0.43 | 0.079 | 0.17948927462 | gnomAD-4.0.0 | 1.36832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| S/R | None | None | 0.007 | None | 0.281 | 0.042 | 0.143124449307 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1179 | likely_benign | 0.1256 | benign | -0.174 | Destabilizing | 0.002 | N | 0.16 | neutral | None | None | None | None | N |
| S/C | 0.1647 | likely_benign | 0.1836 | benign | -0.312 | Destabilizing | 0.427 | N | 0.29 | neutral | None | None | None | None | N |
| S/D | 0.1467 | likely_benign | 0.1236 | benign | -0.084 | Destabilizing | None | N | 0.076 | neutral | None | None | None | None | N |
| S/E | 0.2597 | likely_benign | 0.2583 | benign | -0.193 | Destabilizing | 0.004 | N | 0.159 | neutral | None | None | None | None | N |
| S/F | 0.2843 | likely_benign | 0.322 | benign | -0.872 | Destabilizing | 0.085 | N | 0.413 | neutral | None | None | None | None | N |
| S/G | 0.0563 | likely_benign | 0.0662 | benign | -0.236 | Destabilizing | None | N | 0.059 | neutral | None | None | None | None | N |
| S/H | 0.1509 | likely_benign | 0.1501 | benign | -0.58 | Destabilizing | None | N | 0.144 | neutral | None | None | None | None | N |
| S/I | 0.1938 | likely_benign | 0.2022 | benign | -0.144 | Destabilizing | 0.065 | N | 0.43 | neutral | None | None | None | None | N |
| S/K | 0.2822 | likely_benign | 0.2427 | benign | -0.447 | Destabilizing | None | N | 0.066 | neutral | None | None | None | None | N |
| S/L | 0.1752 | likely_benign | 0.1804 | benign | -0.144 | Destabilizing | 0.018 | N | 0.249 | neutral | None | None | None | None | N |
| S/M | 0.2419 | likely_benign | 0.2427 | benign | -0.081 | Destabilizing | 0.497 | N | 0.272 | neutral | None | None | None | None | N |
| S/N | 0.0576 | likely_benign | 0.0495 | benign | -0.142 | Destabilizing | None | N | 0.059 | neutral | None | None | None | None | N |
| S/P | 0.5223 | ambiguous | 0.5504 | ambiguous | -0.128 | Destabilizing | 0.085 | N | 0.329 | neutral | None | None | None | None | N |
| S/Q | 0.229 | likely_benign | 0.2409 | benign | -0.396 | Destabilizing | 0.009 | N | 0.179 | neutral | None | None | None | None | N |
| S/R | 0.2397 | likely_benign | 0.2488 | benign | -0.153 | Destabilizing | 0.007 | N | 0.281 | neutral | None | None | None | None | N |
| S/T | 0.1131 | likely_benign | 0.1077 | benign | -0.244 | Destabilizing | 0.003 | N | 0.209 | neutral | None | None | None | None | N |
| S/V | 0.2414 | likely_benign | 0.2498 | benign | -0.128 | Destabilizing | 0.018 | N | 0.263 | neutral | None | None | None | None | N |
| S/W | 0.3485 | ambiguous | 0.457 | ambiguous | -0.946 | Destabilizing | 0.788 | D | 0.346 | neutral | None | None | None | None | N |
| S/Y | 0.1716 | likely_benign | 0.1973 | benign | -0.638 | Destabilizing | 0.044 | N | 0.415 | 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.