Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21729 | 65410;65411;65412 | chr2:178584366;178584365;178584364 | chr2:179449093;179449092;179449091 |
| N2AB | 20088 | 60487;60488;60489 | chr2:178584366;178584365;178584364 | chr2:179449093;179449092;179449091 |
| N2A | 19161 | 57706;57707;57708 | chr2:178584366;178584365;178584364 | chr2:179449093;179449092;179449091 |
| N2B | 12664 | 38215;38216;38217 | chr2:178584366;178584365;178584364 | chr2:179449093;179449092;179449091 |
| Novex-1 | 12789 | 38590;38591;38592 | chr2:178584366;178584365;178584364 | chr2:179449093;179449092;179449091 |
| Novex-2 | 12856 | 38791;38792;38793 | chr2:178584366;178584365;178584364 | chr2:179449093;179449092;179449091 |
| 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/G | rs1317452229  |
None | 1.0 | N | 0.733 | 0.563 | 0.465549362696 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/G | rs1317452229 |
None | 1.0 | N | 0.733 | 0.563 | 0.465549362696 | gnomAD-4.0.0 | 6.57531E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47102E-05 | 0 | 0 |
| E/K | rs375439506 |
-0.607 | 0.999 | N | 0.611 | 0.424 | 0.326074293725 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs375439506 |
-0.607 | 0.999 | N | 0.611 | 0.424 | 0.326074293725 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs375439506 |
-0.607 | 0.999 | N | 0.611 | 0.424 | 0.326074293725 | gnomAD-4.0.0 | 4.33928E-06 | None | None | None | None | N | None | 2.67094E-05 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 1.69567E-06 | 1.09835E-05 | 1.60179E-05 |
| E/Q | rs375439506 |
None | 1.0 | N | 0.631 | 0.392 | None | 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 |
| E/Q | rs375439506 |
None | 1.0 | N | 0.631 | 0.392 | None | gnomAD-4.0.0 | 2.47959E-06 | None | None | None | None | N | None | 2.67094E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.19669E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5226 | ambiguous | 0.4614 | ambiguous | -0.779 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.469282097 | None | None | N |
| E/C | 0.9678 | likely_pathogenic | 0.9584 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/D | 0.6362 | likely_pathogenic | 0.5353 | ambiguous | -1.213 | Destabilizing | 0.999 | D | 0.491 | neutral | N | 0.475523068 | None | None | N |
| E/F | 0.9822 | likely_pathogenic | 0.9702 | pathogenic | -0.016 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/G | 0.7059 | likely_pathogenic | 0.6504 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.503288561 | None | None | N |
| E/H | 0.936 | likely_pathogenic | 0.8888 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/I | 0.864 | likely_pathogenic | 0.8103 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/K | 0.8524 | likely_pathogenic | 0.7785 | pathogenic | -0.592 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.467912518 | None | None | N |
| E/L | 0.8979 | likely_pathogenic | 0.8462 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| E/M | 0.8824 | likely_pathogenic | 0.8454 | pathogenic | 1.109 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| E/N | 0.8683 | likely_pathogenic | 0.8158 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| E/P | 0.9098 | likely_pathogenic | 0.917 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| E/Q | 0.3943 | ambiguous | 0.3015 | benign | -0.916 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.468268139 | None | None | N |
| E/R | 0.861 | likely_pathogenic | 0.7849 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/S | 0.6665 | likely_pathogenic | 0.5777 | pathogenic | -1.685 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| E/T | 0.7487 | likely_pathogenic | 0.6461 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/V | 0.7351 | likely_pathogenic | 0.6484 | pathogenic | 0.105 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.477866926 | None | None | N |
| E/W | 0.993 | likely_pathogenic | 0.987 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| E/Y | 0.966 | likely_pathogenic | 0.9449 | pathogenic | 0.288 | Stabilizing | 1.0 | D | 0.782 | 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.