Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32659 | 98200;98201;98202 | chr2:178540191;178540190;178540189 | chr2:179404918;179404917;179404916 |
| N2AB | 31018 | 93277;93278;93279 | chr2:178540191;178540190;178540189 | chr2:179404918;179404917;179404916 |
| N2A | 30091 | 90496;90497;90498 | chr2:178540191;178540190;178540189 | chr2:179404918;179404917;179404916 |
| N2B | 23594 | 71005;71006;71007 | chr2:178540191;178540190;178540189 | chr2:179404918;179404917;179404916 |
| Novex-1 | 23719 | 71380;71381;71382 | chr2:178540191;178540190;178540189 | chr2:179404918;179404917;179404916 |
| Novex-2 | 23786 | 71581;71582;71583 | chr2:178540191;178540190;178540189 | chr2:179404918;179404917;179404916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | None | None | 0.999 | N | 0.569 | 0.414 | 0.378847511475 | gnomAD-4.0.0 | 3.18234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88232E-05 | 0 | 2.85824E-06 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.648 | 0.311 | 0.264547087235 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-06 | 0 | 0 |
| E/V | rs747898161  |
0.386 | 1.0 | N | 0.757 | 0.558 | 0.623669286631 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 1.29182E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/V | rs747898161 |
0.386 | 1.0 | N | 0.757 | 0.558 | 0.623669286631 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | rs747898161 |
0.386 | 1.0 | N | 0.757 | 0.558 | 0.623669286631 | gnomAD-4.0.0 | 3.84307E-06 | None | None | None | None | N | None | 5.07477E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6567 | likely_pathogenic | 0.6022 | pathogenic | -0.667 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.513131697 | None | None | N |
| E/C | 0.9622 | likely_pathogenic | 0.9481 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| E/D | 0.641 | likely_pathogenic | 0.5842 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.467 | neutral | N | 0.4864613 | None | None | N |
| E/F | 0.9727 | likely_pathogenic | 0.9591 | pathogenic | 0.071 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| E/G | 0.7434 | likely_pathogenic | 0.6627 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.467850066 | None | None | N |
| E/H | 0.8881 | likely_pathogenic | 0.8469 | pathogenic | 0.102 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| E/I | 0.9005 | likely_pathogenic | 0.8596 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| E/K | 0.7746 | likely_pathogenic | 0.7012 | pathogenic | -0.194 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.497586242 | None | None | N |
| E/L | 0.931 | likely_pathogenic | 0.9043 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/M | 0.8947 | likely_pathogenic | 0.869 | pathogenic | 0.423 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/N | 0.7855 | likely_pathogenic | 0.7251 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/P | 0.9963 | likely_pathogenic | 0.9927 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| E/Q | 0.3952 | ambiguous | 0.3608 | ambiguous | -0.681 | Destabilizing | 1.0 | D | 0.648 | neutral | N | 0.485118377 | None | None | N |
| E/R | 0.8295 | likely_pathogenic | 0.7668 | pathogenic | 0.2 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/S | 0.6797 | likely_pathogenic | 0.6112 | pathogenic | -1.069 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| E/T | 0.7348 | likely_pathogenic | 0.6693 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| E/V | 0.7657 | likely_pathogenic | 0.7105 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.48620781 | None | None | N |
| E/W | 0.9904 | likely_pathogenic | 0.9849 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/Y | 0.9361 | likely_pathogenic | 0.9105 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.801 | deleterious | 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.