Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23192 | 69799;69800;69801 | chr2:178576670;178576669;178576668 | chr2:179441397;179441396;179441395 |
| N2AB | 21551 | 64876;64877;64878 | chr2:178576670;178576669;178576668 | chr2:179441397;179441396;179441395 |
| N2A | 20624 | 62095;62096;62097 | chr2:178576670;178576669;178576668 | chr2:179441397;179441396;179441395 |
| N2B | 14127 | 42604;42605;42606 | chr2:178576670;178576669;178576668 | chr2:179441397;179441396;179441395 |
| Novex-1 | 14252 | 42979;42980;42981 | chr2:178576670;178576669;178576668 | chr2:179441397;179441396;179441395 |
| Novex-2 | 14319 | 43180;43181;43182 | chr2:178576670;178576669;178576668 | chr2:179441397;179441396;179441395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1343160471  |
0.047 | None | N | 0.053 | 0.11 | 0.158396225186 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1343160471 |
0.047 | None | N | 0.053 | 0.11 | 0.158396225186 | gnomAD-4.0.0 | 1.59164E-06 | None | None | None | None | I | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1319888327 |
0.28 | 0.007 | N | 0.286 | 0.06 | 0.193865811164 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 1.29232E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1319888327 |
0.28 | 0.007 | N | 0.286 | 0.06 | 0.193865811164 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1319888327 |
0.28 | 0.007 | N | 0.286 | 0.06 | 0.193865811164 | gnomAD-4.0.0 | 7.68923E-06 | None | None | None | None | I | None | 8.46224E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84527E-05 |
| T/S | rs1343160471 |
None | 0.003 | N | 0.135 | 0.065 | 0.117506650769 | gnomAD-4.0.0 | 3.18327E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.54539E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0711 | likely_benign | 0.081 | benign | -0.148 | Destabilizing | None | N | 0.053 | neutral | N | 0.475613459 | None | None | I |
| T/C | 0.369 | ambiguous | 0.4256 | ambiguous | -0.381 | Destabilizing | 0.245 | N | 0.265 | neutral | None | None | None | None | I |
| T/D | 0.3717 | ambiguous | 0.4219 | ambiguous | 0.031 | Stabilizing | 0.009 | N | 0.286 | neutral | None | None | None | None | I |
| T/E | 0.2634 | likely_benign | 0.3048 | benign | -0.044 | Destabilizing | None | N | 0.136 | neutral | None | None | None | None | I |
| T/F | 0.2011 | likely_benign | 0.2333 | benign | -0.738 | Destabilizing | 0.044 | N | 0.445 | neutral | None | None | None | None | I |
| T/G | 0.1663 | likely_benign | 0.1995 | benign | -0.24 | Destabilizing | 0.009 | N | 0.181 | neutral | None | None | None | None | I |
| T/H | 0.1803 | likely_benign | 0.203 | benign | -0.376 | Destabilizing | 0.245 | N | 0.343 | neutral | None | None | None | None | I |
| T/I | 0.1228 | likely_benign | 0.1281 | benign | -0.026 | Destabilizing | 0.007 | N | 0.286 | neutral | N | 0.482656861 | None | None | I |
| T/K | 0.1171 | likely_benign | 0.1285 | benign | -0.33 | Destabilizing | None | N | 0.076 | neutral | N | 0.41754659 | None | None | I |
| T/L | 0.0833 | likely_benign | 0.0947 | benign | -0.026 | Destabilizing | None | N | 0.101 | neutral | None | None | None | None | I |
| T/M | 0.0717 | likely_benign | 0.0783 | benign | -0.191 | Destabilizing | 0.001 | N | 0.157 | neutral | None | None | None | None | I |
| T/N | 0.0843 | likely_benign | 0.0992 | benign | -0.156 | Destabilizing | None | N | 0.105 | neutral | None | None | None | None | I |
| T/P | 0.1708 | likely_benign | 0.2162 | benign | -0.04 | Destabilizing | 0.065 | N | 0.324 | neutral | N | 0.509029812 | None | None | I |
| T/Q | 0.1389 | likely_benign | 0.1617 | benign | -0.328 | Destabilizing | 0.022 | N | 0.291 | neutral | None | None | None | None | I |
| T/R | 0.131 | likely_benign | 0.148 | benign | -0.028 | Destabilizing | None | N | 0.082 | neutral | N | 0.446677419 | None | None | I |
| T/S | 0.0962 | likely_benign | 0.1056 | benign | -0.299 | Destabilizing | 0.003 | N | 0.135 | neutral | N | 0.427472795 | None | None | I |
| T/V | 0.0997 | likely_benign | 0.111 | benign | -0.04 | Destabilizing | 0.009 | N | 0.135 | neutral | None | None | None | None | I |
| T/W | 0.5175 | ambiguous | 0.5851 | pathogenic | -0.844 | Destabilizing | 0.788 | D | 0.324 | neutral | None | None | None | None | I |
| T/Y | 0.2078 | likely_benign | 0.2481 | benign | -0.519 | Destabilizing | 0.245 | N | 0.441 | 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.