Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14772 | 44539;44540;44541 | chr2:178629411;178629410;178629409 | chr2:179494138;179494137;179494136 |
| N2AB | 13131 | 39616;39617;39618 | chr2:178629411;178629410;178629409 | chr2:179494138;179494137;179494136 |
| N2A | 12204 | 36835;36836;36837 | chr2:178629411;178629410;178629409 | chr2:179494138;179494137;179494136 |
| N2B | 5707 | 17344;17345;17346 | chr2:178629411;178629410;178629409 | chr2:179494138;179494137;179494136 |
| Novex-1 | 5832 | 17719;17720;17721 | chr2:178629411;178629410;178629409 | chr2:179494138;179494137;179494136 |
| Novex-2 | 5899 | 17920;17921;17922 | chr2:178629411;178629410;178629409 | chr2:179494138;179494137;179494136 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs1426162588  |
None | 1.0 | D | 0.706 | 0.469 | 0.260735089382 | 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 |
| D/H | rs1426162588 |
None | 1.0 | D | 0.706 | 0.469 | 0.260735089382 | gnomAD-4.0.0 | 1.24002E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69589E-06 | 0 | 0 |
| D/Y | rs1426162588 |
0.179 | 1.0 | D | 0.769 | 0.45 | 0.566629817802 | 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 |
| D/Y | rs1426162588 |
0.179 | 1.0 | D | 0.769 | 0.45 | 0.566629817802 | gnomAD-4.0.0 | 2.05365E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7175 | likely_pathogenic | 0.7807 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.583589656 | None | None | N |
| D/C | 0.9798 | likely_pathogenic | 0.987 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/E | 0.7357 | likely_pathogenic | 0.7789 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.413 | neutral | D | 0.55748634 | None | None | N |
| D/F | 0.9868 | likely_pathogenic | 0.9904 | pathogenic | -0.071 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/G | 0.6166 | likely_pathogenic | 0.6981 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.597425062 | None | None | N |
| D/H | 0.885 | likely_pathogenic | 0.9088 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.585517092 | None | None | N |
| D/I | 0.9675 | likely_pathogenic | 0.9764 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/K | 0.9533 | likely_pathogenic | 0.9638 | pathogenic | 0.409 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/L | 0.9662 | likely_pathogenic | 0.9763 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/M | 0.9858 | likely_pathogenic | 0.9885 | pathogenic | 0.328 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| D/N | 0.2656 | likely_benign | 0.2958 | benign | 0.01 | Stabilizing | 1.0 | D | 0.617 | neutral | N | 0.439062063 | None | None | N |
| D/P | 0.8948 | likely_pathogenic | 0.9149 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Q | 0.9497 | likely_pathogenic | 0.9573 | pathogenic | 0.062 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/R | 0.9646 | likely_pathogenic | 0.9723 | pathogenic | 0.611 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/S | 0.5028 | ambiguous | 0.5591 | ambiguous | -0.08 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| D/T | 0.8548 | likely_pathogenic | 0.8671 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/V | 0.8991 | likely_pathogenic | 0.9258 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.787 | deleterious | D | 0.660748962 | None | None | N |
| D/W | 0.9964 | likely_pathogenic | 0.9965 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/Y | 0.8371 | likely_pathogenic | 0.8792 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.769 | deleterious | D | 0.561596517 | 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.