Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8176 | 24751;24752;24753 | chr2:178718580;178718579;178718578 | chr2:179583307;179583306;179583305 |
| N2AB | 7859 | 23800;23801;23802 | chr2:178718580;178718579;178718578 | chr2:179583307;179583306;179583305 |
| N2A | 6932 | 21019;21020;21021 | chr2:178718580;178718579;178718578 | chr2:179583307;179583306;179583305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 0.863 | N | 0.393 | 0.324 | 0.656463732169 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| R/S | rs1162009739  |
-0.271 | 0.27 | N | 0.37 | 0.209 | 0.247872288689 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| R/S | rs1162009739 |
-0.271 | 0.27 | N | 0.37 | 0.209 | 0.247872288689 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/S | rs1162009739 |
-0.271 | 0.27 | N | 0.37 | 0.209 | 0.247872288689 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 0 | 0 |
| R/T | None | None | 0.01 | N | 0.207 | 0.257 | 0.45746916685 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4177 | ambiguous | 0.3509 | ambiguous | -0.918 | Destabilizing | 0.495 | N | 0.335 | neutral | None | None | None | None | I |
| R/C | 0.2274 | likely_benign | 0.1989 | benign | -0.819 | Destabilizing | 0.995 | D | 0.316 | neutral | None | None | None | None | I |
| R/D | 0.6993 | likely_pathogenic | 0.6389 | pathogenic | 0.064 | Stabilizing | 0.704 | D | 0.451 | neutral | None | None | None | None | I |
| R/E | 0.3572 | ambiguous | 0.2989 | benign | 0.204 | Stabilizing | 0.329 | N | 0.331 | neutral | None | None | None | None | I |
| R/F | 0.6584 | likely_pathogenic | 0.5698 | pathogenic | -0.706 | Destabilizing | 0.981 | D | 0.351 | neutral | None | None | None | None | I |
| R/G | 0.252 | likely_benign | 0.2045 | benign | -1.231 | Destabilizing | 0.425 | N | 0.409 | neutral | N | 0.488652619 | None | None | I |
| R/H | 0.1158 | likely_benign | 0.1044 | benign | -1.511 | Destabilizing | 0.981 | D | 0.417 | neutral | None | None | None | None | I |
| R/I | 0.3813 | ambiguous | 0.3031 | benign | -0.072 | Destabilizing | 0.863 | D | 0.393 | neutral | N | 0.504504719 | None | None | I |
| R/K | 0.0818 | likely_benign | 0.0702 | benign | -0.71 | Destabilizing | 0.001 | N | 0.158 | neutral | N | 0.393566158 | None | None | I |
| R/L | 0.2942 | likely_benign | 0.2447 | benign | -0.072 | Destabilizing | 0.495 | N | 0.388 | neutral | None | None | None | None | I |
| R/M | 0.2968 | likely_benign | 0.2345 | benign | -0.455 | Destabilizing | 0.981 | D | 0.364 | neutral | None | None | None | None | I |
| R/N | 0.5537 | ambiguous | 0.4878 | ambiguous | -0.295 | Destabilizing | 0.704 | D | 0.351 | neutral | None | None | None | None | I |
| R/P | 0.3557 | ambiguous | 0.345 | ambiguous | -0.334 | Destabilizing | 0.828 | D | 0.442 | neutral | None | None | None | None | I |
| R/Q | 0.1068 | likely_benign | 0.0956 | benign | -0.415 | Destabilizing | 0.704 | D | 0.383 | neutral | None | None | None | None | I |
| R/S | 0.4901 | ambiguous | 0.4233 | ambiguous | -1.119 | Destabilizing | 0.27 | N | 0.37 | neutral | N | 0.515972506 | None | None | I |
| R/T | 0.2728 | likely_benign | 0.2212 | benign | -0.785 | Destabilizing | 0.01 | N | 0.207 | neutral | N | 0.458599071 | None | None | I |
| R/V | 0.4439 | ambiguous | 0.3626 | ambiguous | -0.334 | Destabilizing | 0.704 | D | 0.428 | neutral | None | None | None | None | I |
| R/W | 0.2667 | likely_benign | 0.2227 | benign | -0.358 | Destabilizing | 0.995 | D | 0.317 | neutral | None | None | None | None | I |
| R/Y | 0.4569 | ambiguous | 0.3806 | ambiguous | -0.088 | Destabilizing | 0.981 | D | 0.363 | neutral | None | None | None | None | I |
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.