Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23231 | 69916;69917;69918 | chr2:178576553;178576552;178576551 | chr2:179441280;179441279;179441278 |
| N2AB | 21590 | 64993;64994;64995 | chr2:178576553;178576552;178576551 | chr2:179441280;179441279;179441278 |
| N2A | 20663 | 62212;62213;62214 | chr2:178576553;178576552;178576551 | chr2:179441280;179441279;179441278 |
| N2B | 14166 | 42721;42722;42723 | chr2:178576553;178576552;178576551 | chr2:179441280;179441279;179441278 |
| Novex-1 | 14291 | 43096;43097;43098 | chr2:178576553;178576552;178576551 | chr2:179441280;179441279;179441278 |
| Novex-2 | 14358 | 43297;43298;43299 | chr2:178576553;178576552;178576551 | chr2:179441280;179441279;179441278 |
| 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/C | rs776642838  |
-0.432 | 0.371 | N | 0.453 | 0.065 | 0.269558022972 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/C | rs776642838 |
-0.432 | 0.371 | N | 0.453 | 0.065 | 0.269558022972 | gnomAD-4.0.0 | 4.10611E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 5.80087E-05 | 0 |
| S/F | rs776642838 |
-1.129 | None | N | 0.387 | 0.087 | 0.383590876969 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| S/F | rs776642838 |
-1.129 | None | N | 0.387 | 0.087 | 0.383590876969 | gnomAD-4.0.0 | 1.3687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-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 | 0.0566 | likely_benign | 0.0569 | benign | -0.401 | Destabilizing | 0.002 | N | 0.344 | neutral | N | 0.431451676 | None | None | N |
| S/C | 0.0748 | likely_benign | 0.0736 | benign | -0.328 | Destabilizing | 0.371 | N | 0.453 | neutral | N | 0.461622654 | None | None | N |
| S/D | 0.3228 | likely_benign | 0.3135 | benign | 0.038 | Stabilizing | 0.035 | N | 0.352 | neutral | None | None | None | None | N |
| S/E | 0.3448 | ambiguous | 0.3505 | ambiguous | -0.039 | Destabilizing | 0.015 | N | 0.323 | neutral | None | None | None | None | N |
| S/F | 0.1297 | likely_benign | 0.1253 | benign | -0.881 | Destabilizing | None | N | 0.387 | neutral | N | 0.493385569 | None | None | N |
| S/G | 0.0842 | likely_benign | 0.083 | benign | -0.548 | Destabilizing | 0.015 | N | 0.295 | neutral | None | None | None | None | N |
| S/H | 0.206 | likely_benign | 0.1984 | benign | -1.048 | Destabilizing | 0.439 | N | 0.448 | neutral | None | None | None | None | N |
| S/I | 0.1293 | likely_benign | 0.1263 | benign | -0.14 | Destabilizing | 0.018 | N | 0.471 | neutral | None | None | None | None | N |
| S/K | 0.4575 | ambiguous | 0.4867 | ambiguous | -0.561 | Destabilizing | 0.015 | N | 0.303 | neutral | None | None | None | None | N |
| S/L | 0.0812 | likely_benign | 0.0864 | benign | -0.14 | Destabilizing | None | N | 0.34 | neutral | None | None | None | None | N |
| S/M | 0.1555 | likely_benign | 0.1544 | benign | 0.093 | Stabilizing | 0.06 | N | 0.477 | neutral | None | None | None | None | N |
| S/N | 0.1291 | likely_benign | 0.1241 | benign | -0.313 | Destabilizing | 0.068 | N | 0.367 | neutral | None | None | None | None | N |
| S/P | 0.0574 | likely_benign | 0.0522 | benign | -0.196 | Destabilizing | None | N | 0.246 | neutral | N | 0.36859785 | None | None | N |
| S/Q | 0.316 | likely_benign | 0.3069 | benign | -0.559 | Destabilizing | 0.068 | N | 0.445 | neutral | None | None | None | None | N |
| S/R | 0.3783 | ambiguous | 0.3891 | ambiguous | -0.344 | Destabilizing | 0.068 | N | 0.547 | neutral | None | None | None | None | N |
| S/T | 0.0839 | likely_benign | 0.0828 | benign | -0.399 | Destabilizing | 0.011 | N | 0.279 | neutral | N | 0.455542044 | None | None | N |
| S/V | 0.1204 | likely_benign | 0.1194 | benign | -0.196 | Destabilizing | 0.007 | N | 0.402 | neutral | None | None | None | None | N |
| S/W | 0.2363 | likely_benign | 0.2373 | benign | -0.872 | Destabilizing | 0.492 | N | 0.645 | neutral | None | None | None | None | N |
| S/Y | 0.1284 | likely_benign | 0.1189 | benign | -0.601 | Destabilizing | 0.013 | N | 0.607 | neutral | N | 0.513704913 | 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.