Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24921 | 74986;74987;74988 | chr2:178571371;178571370;178571369 | chr2:179436098;179436097;179436096 |
| N2AB | 23280 | 70063;70064;70065 | chr2:178571371;178571370;178571369 | chr2:179436098;179436097;179436096 |
| N2A | 22353 | 67282;67283;67284 | chr2:178571371;178571370;178571369 | chr2:179436098;179436097;179436096 |
| N2B | 15856 | 47791;47792;47793 | chr2:178571371;178571370;178571369 | chr2:179436098;179436097;179436096 |
| Novex-1 | 15981 | 48166;48167;48168 | chr2:178571371;178571370;178571369 | chr2:179436098;179436097;179436096 |
| Novex-2 | 16048 | 48367;48368;48369 | chr2:178571371;178571370;178571369 | chr2:179436098;179436097;179436096 |
| 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/F | rs1373803284  |
-1.302 | 0.427 | N | 0.499 | 0.299 | 0.419335720491 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs1373803284 |
-1.302 | 0.427 | N | 0.499 | 0.299 | 0.419335720491 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1373803284 |
-1.302 | 0.427 | N | 0.499 | 0.299 | 0.419335720491 | gnomAD-4.0.0 | 2.56381E-06 | None | None | None | None | N | None | 0 | 3.39132E-05 | None | 0 | 0 | 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 | 0.1144 | likely_benign | 0.1147 | benign | -0.299 | Destabilizing | 0.019 | N | 0.318 | neutral | N | 0.509190102 | None | None | N |
| S/C | 0.1044 | likely_benign | 0.1028 | benign | -0.511 | Destabilizing | 0.602 | D | 0.467 | neutral | N | 0.519786655 | None | None | N |
| S/D | 0.4813 | ambiguous | 0.4519 | ambiguous | -1.639 | Destabilizing | 0.22 | N | 0.355 | neutral | None | None | None | None | N |
| S/E | 0.6707 | likely_pathogenic | 0.6276 | pathogenic | -1.63 | Destabilizing | 0.22 | N | 0.34 | neutral | None | None | None | None | N |
| S/F | 0.2777 | likely_benign | 0.2848 | benign | -0.739 | Destabilizing | 0.427 | N | 0.499 | neutral | N | 0.480286462 | None | None | N |
| S/G | 0.0902 | likely_benign | 0.0871 | benign | -0.521 | Destabilizing | 0.104 | N | 0.34 | neutral | None | None | None | None | N |
| S/H | 0.356 | ambiguous | 0.3276 | benign | -1.188 | Destabilizing | 0.859 | D | 0.466 | neutral | None | None | None | None | N |
| S/I | 0.3285 | likely_benign | 0.325 | benign | 0.181 | Stabilizing | 0.001 | N | 0.275 | neutral | None | None | None | None | N |
| S/K | 0.6415 | likely_pathogenic | 0.5893 | pathogenic | -0.702 | Destabilizing | 0.22 | N | 0.345 | neutral | None | None | None | None | N |
| S/L | 0.1209 | likely_benign | 0.1267 | benign | 0.181 | Stabilizing | 0.02 | N | 0.415 | neutral | None | None | None | None | N |
| S/M | 0.2401 | likely_benign | 0.2489 | benign | 0.572 | Stabilizing | 0.497 | N | 0.484 | neutral | None | None | None | None | N |
| S/N | 0.1477 | likely_benign | 0.1437 | benign | -1.023 | Destabilizing | 0.22 | N | 0.379 | neutral | None | None | None | None | N |
| S/P | 0.8108 | likely_pathogenic | 0.7701 | pathogenic | 0.054 | Stabilizing | 0.301 | N | 0.486 | neutral | N | 0.50142891 | None | None | N |
| S/Q | 0.5414 | ambiguous | 0.5034 | ambiguous | -1.255 | Destabilizing | 0.667 | D | 0.475 | neutral | None | None | None | None | N |
| S/R | 0.5565 | ambiguous | 0.4827 | ambiguous | -0.524 | Destabilizing | 0.22 | N | 0.501 | neutral | None | None | None | None | N |
| S/T | 0.0768 | likely_benign | 0.0795 | benign | -0.752 | Destabilizing | None | N | 0.099 | neutral | N | 0.409233751 | None | None | N |
| S/V | 0.2683 | likely_benign | 0.2726 | benign | 0.054 | Stabilizing | 0.02 | N | 0.418 | neutral | None | None | None | None | N |
| S/W | 0.473 | ambiguous | 0.4501 | ambiguous | -0.899 | Destabilizing | 0.958 | D | 0.503 | neutral | None | None | None | None | N |
| S/Y | 0.2525 | likely_benign | 0.251 | benign | -0.502 | Destabilizing | 0.602 | D | 0.481 | neutral | N | 0.479272504 | 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.