Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2398 | 7417;7418;7419 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
| N2AB | 2398 | 7417;7418;7419 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
| N2A | 2398 | 7417;7418;7419 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
| N2B | 2352 | 7279;7280;7281 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
| Novex-1 | 2352 | 7279;7280;7281 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
| Novex-2 | 2352 | 7279;7280;7281 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
| Novex-3 | 2398 | 7417;7418;7419 | chr2:178773976;178773975;178773974 | chr2:179638703;179638702;179638701 |
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 | rs766170235  |
0.174 | 0.667 | D | 0.529 | 0.366 | 0.584767571859 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| S/I | rs766170235 |
0.174 | 0.667 | D | 0.529 | 0.366 | 0.584767571859 | 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 |
| S/I | rs766170235 |
0.174 | 0.667 | D | 0.529 | 0.366 | 0.584767571859 | gnomAD-4.0.0 | 3.84197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17552E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1732 | likely_benign | 0.1763 | benign | -0.215 | Destabilizing | 0.072 | N | 0.475 | neutral | None | None | None | None | N |
| S/C | 0.1299 | likely_benign | 0.1269 | benign | -0.159 | Destabilizing | 0.958 | D | 0.457 | neutral | D | 0.630913713 | None | None | N |
| S/D | 0.254 | likely_benign | 0.2452 | benign | -0.05 | Destabilizing | 0.157 | N | 0.391 | neutral | None | None | None | None | N |
| S/E | 0.6436 | likely_pathogenic | 0.6558 | pathogenic | -0.134 | Destabilizing | 0.272 | N | 0.398 | neutral | None | None | None | None | N |
| S/F | 0.5743 | likely_pathogenic | 0.5894 | pathogenic | -0.715 | Destabilizing | 0.89 | D | 0.532 | neutral | None | None | None | None | N |
| S/G | 0.0676 | likely_benign | 0.0662 | benign | -0.347 | Destabilizing | 0.001 | N | 0.201 | neutral | N | 0.516275123 | None | None | N |
| S/H | 0.4352 | ambiguous | 0.4404 | ambiguous | -0.813 | Destabilizing | 0.832 | D | 0.404 | neutral | None | None | None | None | N |
| S/I | 0.3951 | ambiguous | 0.4188 | ambiguous | 0.006 | Stabilizing | 0.667 | D | 0.529 | neutral | D | 0.654108258 | None | None | N |
| S/K | 0.7318 | likely_pathogenic | 0.7442 | pathogenic | -0.594 | Destabilizing | 0.157 | N | 0.407 | neutral | None | None | None | None | N |
| S/L | 0.2287 | likely_benign | 0.2395 | benign | 0.006 | Stabilizing | 0.567 | D | 0.49 | neutral | None | None | None | None | N |
| S/M | 0.3447 | ambiguous | 0.3572 | ambiguous | 0.108 | Stabilizing | 0.968 | D | 0.424 | neutral | None | None | None | None | N |
| S/N | 0.0971 | likely_benign | 0.0947 | benign | -0.23 | Destabilizing | 0.001 | N | 0.225 | neutral | D | 0.545039717 | None | None | N |
| S/P | 0.8651 | likely_pathogenic | 0.8725 | pathogenic | -0.038 | Destabilizing | 0.726 | D | 0.383 | neutral | None | None | None | None | N |
| S/Q | 0.6511 | likely_pathogenic | 0.6592 | pathogenic | -0.443 | Destabilizing | 0.567 | D | 0.369 | neutral | None | None | None | None | N |
| S/R | 0.6725 | likely_pathogenic | 0.6907 | pathogenic | -0.36 | Destabilizing | 0.497 | N | 0.389 | neutral | D | 0.652077694 | None | None | N |
| S/T | 0.0855 | likely_benign | 0.0864 | benign | -0.283 | Destabilizing | 0.22 | N | 0.474 | neutral | D | 0.577582276 | None | None | N |
| S/V | 0.3701 | ambiguous | 0.3886 | ambiguous | -0.038 | Destabilizing | 0.726 | D | 0.511 | neutral | None | None | None | None | N |
| S/W | 0.6814 | likely_pathogenic | 0.6947 | pathogenic | -0.793 | Destabilizing | 0.968 | D | 0.666 | neutral | None | None | None | None | N |
| S/Y | 0.486 | ambiguous | 0.4988 | ambiguous | -0.513 | Destabilizing | 0.89 | D | 0.533 | 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.