Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7955 | 24088;24089;24090 | chr2:178719629;178719628;178719627 | chr2:179584356;179584355;179584354 |
| N2AB | 7638 | 23137;23138;23139 | chr2:178719629;178719628;178719627 | chr2:179584356;179584355;179584354 |
| N2A | 6711 | 20356;20357;20358 | chr2:178719629;178719628;178719627 | chr2:179584356;179584355;179584354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs767163830  |
0.105 | 0.978 | D | 0.799 | 0.737 | 0.818275426986 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/A | rs767163830 |
0.105 | 0.978 | D | 0.799 | 0.737 | 0.818275426986 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| D/E | rs759495262 |
-0.539 | 0.989 | D | 0.623 | 0.709 | 0.618151229915 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/E | rs759495262 |
-0.539 | 0.989 | D | 0.623 | 0.709 | 0.618151229915 | gnomAD-4.0.0 | 2.73696E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 1.15942E-05 | 3.31334E-05 |
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 | 0.7804 | likely_pathogenic | 0.8359 | pathogenic | 0.753 | Stabilizing | 0.978 | D | 0.799 | deleterious | D | 0.655480722 | None | None | N |
| D/C | 0.9055 | likely_pathogenic | 0.938 | pathogenic | 0.525 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/E | 0.6856 | likely_pathogenic | 0.719 | pathogenic | -0.652 | Destabilizing | 0.989 | D | 0.623 | neutral | D | 0.625017151 | None | None | N |
| D/F | 0.9569 | likely_pathogenic | 0.9707 | pathogenic | 1.417 | Stabilizing | 0.99 | D | 0.881 | deleterious | None | None | None | None | N |
| D/G | 0.7638 | likely_pathogenic | 0.8149 | pathogenic | 0.261 | Stabilizing | 0.989 | D | 0.769 | deleterious | D | 0.671701888 | None | None | N |
| D/H | 0.687 | likely_pathogenic | 0.7809 | pathogenic | 0.968 | Stabilizing | 0.999 | D | 0.789 | deleterious | D | 0.596218016 | None | None | N |
| D/I | 0.9449 | likely_pathogenic | 0.9595 | pathogenic | 2.074 | Highly Stabilizing | 0.995 | D | 0.881 | deleterious | None | None | None | None | N |
| D/K | 0.9459 | likely_pathogenic | 0.9602 | pathogenic | 0.417 | Stabilizing | 0.995 | D | 0.793 | deleterious | None | None | None | None | N |
| D/L | 0.9362 | likely_pathogenic | 0.9535 | pathogenic | 2.074 | Highly Stabilizing | 0.995 | D | 0.849 | deleterious | None | None | None | None | N |
| D/M | 0.9621 | likely_pathogenic | 0.9736 | pathogenic | 2.406 | Highly Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/N | 0.3897 | ambiguous | 0.4802 | ambiguous | -0.456 | Destabilizing | 0.997 | D | 0.711 | prob.delet. | D | 0.618809426 | None | None | N |
| D/P | 0.9912 | likely_pathogenic | 0.9929 | pathogenic | 1.666 | Stabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| D/Q | 0.8503 | likely_pathogenic | 0.8824 | pathogenic | -0.062 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/R | 0.9513 | likely_pathogenic | 0.961 | pathogenic | 0.326 | Stabilizing | 0.998 | D | 0.851 | deleterious | None | None | None | None | N |
| D/S | 0.4567 | ambiguous | 0.5454 | ambiguous | -0.729 | Destabilizing | 0.967 | D | 0.659 | neutral | None | None | None | None | N |
| D/T | 0.8374 | likely_pathogenic | 0.8837 | pathogenic | -0.27 | Destabilizing | 0.643 | D | 0.523 | neutral | None | None | None | None | N |
| D/V | 0.8459 | likely_pathogenic | 0.8833 | pathogenic | 1.666 | Stabilizing | 0.994 | D | 0.853 | deleterious | D | 0.672105496 | None | None | N |
| D/W | 0.986 | likely_pathogenic | 0.9892 | pathogenic | 1.365 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| D/Y | 0.7557 | likely_pathogenic | 0.8181 | pathogenic | 1.68 | Stabilizing | 0.576 | D | 0.715 | prob.delet. | D | 0.64636558 | 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.