Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24483 | 73672;73673;73674 | chr2:178572685;178572684;178572683 | chr2:179437412;179437411;179437410 |
| N2AB | 22842 | 68749;68750;68751 | chr2:178572685;178572684;178572683 | chr2:179437412;179437411;179437410 |
| N2A | 21915 | 65968;65969;65970 | chr2:178572685;178572684;178572683 | chr2:179437412;179437411;179437410 |
| N2B | 15418 | 46477;46478;46479 | chr2:178572685;178572684;178572683 | chr2:179437412;179437411;179437410 |
| Novex-1 | 15543 | 46852;46853;46854 | chr2:178572685;178572684;178572683 | chr2:179437412;179437411;179437410 |
| Novex-2 | 15610 | 47053;47054;47055 | chr2:178572685;178572684;178572683 | chr2:179437412;179437411;179437410 |
| 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/P | None | None | 0.939 | N | 0.63 | 0.442 | 0.679888000648 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43394E-05 | 0 |
| L/R | rs1226073003  |
-1.674 | 0.884 | N | 0.595 | 0.353 | 0.629781192331 | 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 |
| L/R | rs1226073003 |
-1.674 | 0.884 | N | 0.595 | 0.353 | 0.629781192331 | gnomAD-4.0.0 | 1.59264E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43394E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3506 | ambiguous | 0.4021 | ambiguous | -2.535 | Highly Destabilizing | 0.373 | N | 0.495 | neutral | None | None | None | None | N |
| L/C | 0.5582 | ambiguous | 0.5814 | pathogenic | -1.564 | Destabilizing | 0.996 | D | 0.555 | neutral | None | None | None | None | N |
| L/D | 0.9269 | likely_pathogenic | 0.9543 | pathogenic | -2.97 | Highly Destabilizing | 0.91 | D | 0.625 | neutral | None | None | None | None | N |
| L/E | 0.6271 | likely_pathogenic | 0.7136 | pathogenic | -2.679 | Highly Destabilizing | 0.742 | D | 0.617 | neutral | None | None | None | None | N |
| L/F | 0.2515 | likely_benign | 0.2756 | benign | -1.529 | Destabilizing | 0.91 | D | 0.568 | neutral | None | None | None | None | N |
| L/G | 0.7705 | likely_pathogenic | 0.812 | pathogenic | -3.121 | Highly Destabilizing | 0.59 | D | 0.592 | neutral | None | None | None | None | N |
| L/H | 0.3543 | ambiguous | 0.4197 | ambiguous | -2.761 | Highly Destabilizing | 0.996 | D | 0.639 | neutral | None | None | None | None | N |
| L/I | 0.1502 | likely_benign | 0.1712 | benign | -0.803 | Destabilizing | 0.59 | D | 0.493 | neutral | None | None | None | None | N |
| L/K | 0.5926 | likely_pathogenic | 0.6812 | pathogenic | -1.851 | Destabilizing | 0.742 | D | 0.576 | neutral | None | None | None | None | N |
| L/M | 0.0817 | likely_benign | 0.0876 | benign | -0.785 | Destabilizing | 0.164 | N | 0.393 | neutral | N | 0.459292504 | None | None | N |
| L/N | 0.5696 | likely_pathogenic | 0.6486 | pathogenic | -2.397 | Highly Destabilizing | 0.91 | D | 0.626 | neutral | None | None | None | None | N |
| L/P | 0.991 | likely_pathogenic | 0.9928 | pathogenic | -1.367 | Destabilizing | 0.939 | D | 0.63 | neutral | N | 0.487934509 | None | None | N |
| L/Q | 0.232 | likely_benign | 0.2762 | benign | -2.121 | Highly Destabilizing | 0.884 | D | 0.605 | neutral | N | 0.482225292 | None | None | N |
| L/R | 0.5105 | ambiguous | 0.5853 | pathogenic | -1.8 | Destabilizing | 0.884 | D | 0.595 | neutral | N | 0.481609217 | None | None | N |
| L/S | 0.3126 | likely_benign | 0.3646 | ambiguous | -3.024 | Highly Destabilizing | 0.016 | N | 0.361 | neutral | None | None | None | None | N |
| L/T | 0.2539 | likely_benign | 0.2939 | benign | -2.579 | Highly Destabilizing | 0.016 | N | 0.293 | neutral | None | None | None | None | N |
| L/V | 0.1338 | likely_benign | 0.1477 | benign | -1.367 | Destabilizing | 0.309 | N | 0.496 | neutral | N | 0.461466018 | None | None | N |
| L/W | 0.531 | ambiguous | 0.577 | pathogenic | -1.984 | Destabilizing | 0.996 | D | 0.609 | neutral | None | None | None | None | N |
| L/Y | 0.4715 | ambiguous | 0.5403 | ambiguous | -1.675 | Destabilizing | 0.984 | D | 0.587 | 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.