Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8046 | 24361;24362;24363 | chr2:178719254;178719253;178719252 | chr2:179583981;179583980;179583979 |
| N2AB | 7729 | 23410;23411;23412 | chr2:178719254;178719253;178719252 | chr2:179583981;179583980;179583979 |
| N2A | 6802 | 20629;20630;20631 | chr2:178719254;178719253;178719252 | chr2:179583981;179583980;179583979 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs375154651  |
-0.738 | None | N | 0.189 | 0.022 | 0.0401082797425 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| L/F | rs375154651 |
-0.738 | None | N | 0.189 | 0.022 | 0.0401082797425 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | rs375154651 |
-0.738 | None | N | 0.189 | 0.022 | 0.0401082797425 | gnomAD-4.0.0 | 3.71831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08576E-06 | 0 | 0 |
| L/S | rs1553904761 |
None | None | N | 0.199 | 0.035 | 0.137902524267 | gnomAD-4.0.0 | 1.36842E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 8.9948E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.0686 | likely_benign | 0.0644 | benign | -0.527 | Destabilizing | None | N | 0.159 | neutral | None | None | None | None | N |
| L/C | 0.1838 | likely_benign | 0.1867 | benign | -0.532 | Destabilizing | 0.356 | N | 0.337 | neutral | None | None | None | None | N |
| L/D | 0.155 | likely_benign | 0.1565 | benign | 0.254 | Stabilizing | None | N | 0.243 | neutral | None | None | None | None | N |
| L/E | 0.1151 | likely_benign | 0.1168 | benign | 0.167 | Stabilizing | 0.016 | N | 0.377 | neutral | None | None | None | None | N |
| L/F | 0.0589 | likely_benign | 0.0614 | benign | -0.532 | Destabilizing | None | N | 0.189 | neutral | N | 0.41349506 | None | None | N |
| L/G | 0.1333 | likely_benign | 0.1264 | benign | -0.697 | Destabilizing | None | N | 0.21 | neutral | None | None | None | None | N |
| L/H | 0.0718 | likely_benign | 0.0713 | benign | -0.026 | Destabilizing | 0.356 | N | 0.393 | neutral | None | None | None | None | N |
| L/I | 0.0659 | likely_benign | 0.0655 | benign | -0.206 | Destabilizing | 0.001 | N | 0.163 | neutral | None | None | None | None | N |
| L/K | 0.1022 | likely_benign | 0.105 | benign | -0.112 | Destabilizing | 0.038 | N | 0.376 | neutral | None | None | None | None | N |
| L/M | 0.0709 | likely_benign | 0.0747 | benign | -0.225 | Destabilizing | 0.002 | N | 0.219 | neutral | N | 0.395082657 | None | None | N |
| L/N | 0.0908 | likely_benign | 0.0894 | benign | 0.111 | Stabilizing | 0.038 | N | 0.449 | neutral | None | None | None | None | N |
| L/P | 0.1464 | likely_benign | 0.1513 | benign | -0.279 | Destabilizing | 0.072 | N | 0.451 | neutral | None | None | None | None | N |
| L/Q | 0.0676 | likely_benign | 0.0676 | benign | -0.099 | Destabilizing | 0.072 | N | 0.447 | neutral | None | None | None | None | N |
| L/R | 0.0785 | likely_benign | 0.0787 | benign | 0.368 | Stabilizing | 0.072 | N | 0.427 | neutral | None | None | None | None | N |
| L/S | 0.0585 | likely_benign | 0.0506 | benign | -0.425 | Destabilizing | None | N | 0.199 | neutral | N | 0.317427163 | None | None | N |
| L/T | 0.07 | likely_benign | 0.067 | benign | -0.398 | Destabilizing | None | N | 0.133 | neutral | None | None | None | None | N |
| L/V | 0.0611 | likely_benign | 0.062 | benign | -0.279 | Destabilizing | 0.005 | N | 0.207 | neutral | N | 0.404606218 | None | None | N |
| L/W | 0.0972 | likely_benign | 0.1002 | benign | -0.541 | Destabilizing | 0.612 | D | 0.361 | neutral | N | 0.457035193 | None | None | N |
| L/Y | 0.1048 | likely_benign | 0.1103 | benign | -0.268 | Destabilizing | 0.038 | N | 0.424 | 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.