Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
| N2AB | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
| N2A | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
| N2B | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
| Novex-1 | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
| Novex-2 | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
| Novex-3 | 22 | 289;290;291 | chr2:178804579;178804578;178804577 | chr2:179669306;179669305;179669304 |
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 | rs1305775594  |
-0.498 | None | N | 0.098 | 0.122 | 0.126345400529 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | 0.009(TCAP) | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1305775594 |
-0.498 | None | N | 0.098 | 0.122 | 0.126345400529 | gnomAD-4.0.0 | 6.84113E-07 | None | None | None | 0.009(TCAP) | N | None | 0 | 0 | None | 0 | 2.51991E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.166 | D | 0.326 | 0.429 | 0.411001663086 | gnomAD-4.0.0 | 6.84117E-07 | None | None | None | 0.013(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1598E-05 | 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 | 0.074 | likely_benign | 0.0759 | benign | -0.642 | Destabilizing | None | N | 0.098 | neutral | N | 0.4552629 | None | 0.009(TCAP) | N |
| T/C | 0.7501 | likely_pathogenic | 0.7524 | pathogenic | -0.358 | Destabilizing | 0.582 | D | 0.358 | neutral | None | None | None | -0.012(TCAP) | N |
| T/D | 0.3479 | ambiguous | 0.3917 | ambiguous | 0.123 | Stabilizing | 0.053 | N | 0.325 | neutral | None | None | None | -0.043(TCAP) | N |
| T/E | 0.2573 | likely_benign | 0.284 | benign | 0.08 | Stabilizing | 0.158 | N | 0.275 | neutral | None | None | None | -0.099(TCAP) | N |
| T/F | 0.2995 | likely_benign | 0.3309 | benign | -0.931 | Destabilizing | 0.833 | D | 0.367 | neutral | None | None | None | 0.251(TCAP) | N |
| T/G | 0.2691 | likely_benign | 0.2834 | benign | -0.837 | Destabilizing | 0.089 | N | 0.364 | neutral | None | None | None | -0.004(TCAP) | N |
| T/H | 0.3391 | likely_benign | 0.3672 | ambiguous | -1.121 | Destabilizing | 0.956 | D | 0.342 | neutral | None | None | None | 0.658(TCAP) | N |
| T/I | 0.1913 | likely_benign | 0.2117 | benign | -0.23 | Destabilizing | 0.166 | N | 0.326 | neutral | D | 0.55748634 | None | 0.013(TCAP) | N |
| T/K | 0.2136 | likely_benign | 0.2426 | benign | -0.513 | Destabilizing | 0.208 | N | 0.274 | neutral | None | None | None | -0.129(TCAP) | N |
| T/L | 0.1176 | likely_benign | 0.1228 | benign | -0.23 | Destabilizing | 0.052 | N | 0.318 | neutral | None | None | None | 0.013(TCAP) | N |
| T/M | 0.1028 | likely_benign | 0.1028 | benign | 0.044 | Stabilizing | 0.651 | D | 0.359 | neutral | None | None | None | 0.262(TCAP) | N |
| T/N | 0.1276 | likely_benign | 0.1391 | benign | -0.346 | Destabilizing | 0.079 | N | 0.303 | neutral | N | 0.44019834 | None | -0.438(TCAP) | N |
| T/P | 0.1413 | likely_benign | 0.1351 | benign | -0.337 | Destabilizing | 0.041 | N | 0.318 | neutral | N | 0.451372878 | None | 0.019(TCAP) | N |
| T/Q | 0.2162 | likely_benign | 0.2322 | benign | -0.566 | Destabilizing | 0.467 | N | 0.373 | neutral | None | None | None | -0.297(TCAP) | N |
| T/R | 0.1751 | likely_benign | 0.199 | benign | -0.238 | Destabilizing | 0.413 | N | 0.333 | neutral | None | None | None | -0.118(TCAP) | N |
| T/S | 0.098 | likely_benign | 0.1038 | benign | -0.631 | Destabilizing | 0.003 | N | 0.271 | neutral | N | 0.44443173 | None | -0.325(TCAP) | N |
| T/V | 0.1366 | likely_benign | 0.1476 | benign | -0.337 | Destabilizing | 0.037 | N | 0.303 | neutral | None | None | None | 0.019(TCAP) | N |
| T/W | 0.6867 | likely_pathogenic | 0.7165 | pathogenic | -0.865 | Destabilizing | 0.983 | D | 0.397 | neutral | None | None | None | 0.379(TCAP) | N |
| T/Y | 0.377 | ambiguous | 0.4046 | ambiguous | -0.619 | Destabilizing | 0.833 | D | 0.37 | neutral | None | None | None | 0.466(TCAP) | 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.