Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14715 | 44368;44369;44370 | chr2:178630815;178630814;178630813 | chr2:179495542;179495541;179495540 |
| N2AB | 13074 | 39445;39446;39447 | chr2:178630815;178630814;178630813 | chr2:179495542;179495541;179495540 |
| N2A | 12147 | 36664;36665;36666 | chr2:178630815;178630814;178630813 | chr2:179495542;179495541;179495540 |
| N2B | 5650 | 17173;17174;17175 | chr2:178630815;178630814;178630813 | chr2:179495542;179495541;179495540 |
| Novex-1 | 5775 | 17548;17549;17550 | chr2:178630815;178630814;178630813 | chr2:179495542;179495541;179495540 |
| Novex-2 | 5842 | 17749;17750;17751 | chr2:178630815;178630814;178630813 | chr2:179495542;179495541;179495540 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1448072807  |
None | 0.468 | N | 0.337 | 0.183 | 0.265010934533 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs1448072807 |
None | 0.468 | N | 0.337 | 0.183 | 0.265010934533 | gnomAD-4.0.0 | 2.56581E-06 | None | None | None | None | N | None | 3.38753E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs1448072807 |
0.048 | 0.201 | N | 0.43 | 0.127 | 0.209622950755 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs1448072807 |
0.048 | 0.201 | N | 0.43 | 0.127 | 0.209622950755 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/I | rs1448072807 |
0.048 | 0.201 | N | 0.43 | 0.127 | 0.209622950755 | gnomAD-4.0.0 | 6.57514E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | None | None | 0.641 | N | 0.592 | 0.171 | 0.436671004673 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1963 | likely_benign | 0.3013 | benign | -0.419 | Destabilizing | 0.064 | N | 0.419 | neutral | None | None | None | None | N |
| L/C | 0.3567 | ambiguous | 0.5537 | ambiguous | -0.667 | Destabilizing | 0.964 | D | 0.419 | neutral | None | None | None | None | N |
| L/D | 0.4715 | ambiguous | 0.6929 | pathogenic | -0.256 | Destabilizing | 0.25 | N | 0.583 | neutral | None | None | None | None | N |
| L/E | 0.2558 | likely_benign | 0.3648 | ambiguous | -0.346 | Destabilizing | 0.25 | N | 0.572 | neutral | None | None | None | None | N |
| L/F | 0.1005 | likely_benign | 0.1356 | benign | -0.569 | Destabilizing | 0.468 | N | 0.337 | neutral | N | 0.371448736 | None | None | N |
| L/G | 0.3761 | ambiguous | 0.5554 | ambiguous | -0.534 | Destabilizing | 0.25 | N | 0.565 | neutral | None | None | None | None | N |
| L/H | 0.1013 | likely_benign | 0.17 | benign | 0.097 | Stabilizing | None | N | 0.291 | neutral | N | 0.309512559 | None | None | N |
| L/I | 0.0903 | likely_benign | 0.116 | benign | -0.234 | Destabilizing | 0.201 | N | 0.43 | neutral | N | 0.391407975 | None | None | N |
| L/K | 0.1598 | likely_benign | 0.2611 | benign | -0.305 | Destabilizing | 0.25 | N | 0.459 | neutral | None | None | None | None | N |
| L/M | 0.1215 | likely_benign | 0.1485 | benign | -0.511 | Destabilizing | 0.878 | D | 0.428 | neutral | None | None | None | None | N |
| L/N | 0.1959 | likely_benign | 0.3599 | ambiguous | -0.136 | Destabilizing | 0.143 | N | 0.556 | neutral | None | None | None | None | N |
| L/P | 0.1969 | likely_benign | 0.361 | ambiguous | -0.267 | Destabilizing | 0.641 | D | 0.592 | neutral | N | 0.391166067 | None | None | N |
| L/Q | 0.096 | likely_benign | 0.136 | benign | -0.321 | Destabilizing | 0.538 | D | 0.548 | neutral | None | None | None | None | N |
| L/R | 0.1082 | likely_benign | 0.1665 | benign | 0.164 | Stabilizing | 0.201 | N | 0.519 | neutral | N | 0.334551864 | None | None | N |
| L/S | 0.177 | likely_benign | 0.2736 | benign | -0.509 | Destabilizing | 0.064 | N | 0.487 | neutral | None | None | None | None | N |
| L/T | 0.1611 | likely_benign | 0.2583 | benign | -0.498 | Destabilizing | 0.002 | N | 0.207 | neutral | None | None | None | None | N |
| L/V | 0.0952 | likely_benign | 0.1217 | benign | -0.267 | Destabilizing | 0.049 | N | 0.469 | neutral | N | 0.407160559 | None | None | N |
| L/W | 0.1762 | likely_benign | 0.259 | benign | -0.607 | Destabilizing | 0.964 | D | 0.471 | neutral | None | None | None | None | N |
| L/Y | 0.2058 | likely_benign | 0.3384 | benign | -0.356 | Destabilizing | 0.143 | N | 0.463 | 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.