Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6966 | 21121;21122;21123 | chr2:178724479;178724478;178724477 | chr2:179589206;179589205;179589204 |
| N2AB | 6649 | 20170;20171;20172 | chr2:178724479;178724478;178724477 | chr2:179589206;179589205;179589204 |
| N2A | 5722 | 17389;17390;17391 | chr2:178724479;178724478;178724477 | chr2:179589206;179589205;179589204 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs764077044  |
-0.59 | None | N | 0.362 | 0.033 | 0.0401082797425 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 1.665E-04 |
| T/A | rs764077044 |
-0.59 | None | N | 0.362 | 0.033 | 0.0401082797425 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/A | rs764077044 |
-0.59 | None | N | 0.362 | 0.033 | 0.0401082797425 | gnomAD-4.0.0 | 4.34138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08948E-06 | 1.099E-05 | 0 |
| T/S | rs764077044 |
None | 0.001 | N | 0.472 | 0.027 | 0.0716867268079 | gnomAD-4.0.0 | 6.84777E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0015E-07 | 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 | 0.0925 | likely_benign | 0.0773 | benign | -0.722 | Destabilizing | None | N | 0.362 | neutral | N | 0.512584619 | None | None | N |
| T/C | 0.4562 | ambiguous | 0.4039 | ambiguous | -0.449 | Destabilizing | 0.909 | D | 0.616 | neutral | None | None | None | None | N |
| T/D | 0.4391 | ambiguous | 0.3704 | ambiguous | -0.168 | Destabilizing | 0.567 | D | 0.584 | neutral | None | None | None | None | N |
| T/E | 0.3658 | ambiguous | 0.3168 | benign | -0.169 | Destabilizing | 0.157 | N | 0.548 | neutral | None | None | None | None | N |
| T/F | 0.1823 | likely_benign | 0.1535 | benign | -0.752 | Destabilizing | 0.726 | D | 0.668 | neutral | None | None | None | None | N |
| T/G | 0.3331 | likely_benign | 0.2599 | benign | -0.986 | Destabilizing | 0.157 | N | 0.553 | neutral | None | None | None | None | N |
| T/H | 0.2471 | likely_benign | 0.2239 | benign | -1.242 | Destabilizing | 0.909 | D | 0.671 | neutral | None | None | None | None | N |
| T/I | 0.125 | likely_benign | 0.1005 | benign | -0.112 | Destabilizing | 0.124 | N | 0.525 | neutral | N | 0.497711167 | None | None | N |
| T/K | 0.2626 | likely_benign | 0.2476 | benign | -0.729 | Destabilizing | 0.157 | N | 0.557 | neutral | None | None | None | None | N |
| T/L | 0.0895 | likely_benign | 0.0772 | benign | -0.112 | Destabilizing | 0.157 | N | 0.539 | neutral | None | None | None | None | N |
| T/M | 0.0906 | likely_benign | 0.0795 | benign | 0.124 | Stabilizing | 0.726 | D | 0.628 | neutral | None | None | None | None | N |
| T/N | 0.1456 | likely_benign | 0.1148 | benign | -0.633 | Destabilizing | 0.331 | N | 0.575 | neutral | N | 0.515816925 | None | None | N |
| T/P | 0.3022 | likely_benign | 0.2486 | benign | -0.282 | Destabilizing | 0.497 | N | 0.613 | neutral | N | 0.490120333 | None | None | N |
| T/Q | 0.2565 | likely_benign | 0.2313 | benign | -0.785 | Destabilizing | 0.567 | D | 0.623 | neutral | None | None | None | None | N |
| T/R | 0.1865 | likely_benign | 0.1862 | benign | -0.495 | Destabilizing | 0.567 | D | 0.623 | neutral | None | None | None | None | N |
| T/S | 0.1145 | likely_benign | 0.0933 | benign | -0.913 | Destabilizing | 0.001 | N | 0.472 | neutral | N | 0.464657386 | None | None | N |
| T/V | 0.1148 | likely_benign | 0.0951 | benign | -0.282 | Destabilizing | 0.005 | N | 0.454 | neutral | None | None | None | None | N |
| T/W | 0.5372 | ambiguous | 0.5026 | ambiguous | -0.695 | Destabilizing | 0.968 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/Y | 0.241 | likely_benign | 0.2092 | benign | -0.468 | Destabilizing | 0.726 | D | 0.671 | 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.