Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24260 | 73003;73004;73005 | chr2:178573354;178573353;178573352 | chr2:179438081;179438080;179438079 |
| N2AB | 22619 | 68080;68081;68082 | chr2:178573354;178573353;178573352 | chr2:179438081;179438080;179438079 |
| N2A | 21692 | 65299;65300;65301 | chr2:178573354;178573353;178573352 | chr2:179438081;179438080;179438079 |
| N2B | 15195 | 45808;45809;45810 | chr2:178573354;178573353;178573352 | chr2:179438081;179438080;179438079 |
| Novex-1 | 15320 | 46183;46184;46185 | chr2:178573354;178573353;178573352 | chr2:179438081;179438080;179438079 |
| Novex-2 | 15387 | 46384;46385;46386 | chr2:178573354;178573353;178573352 | chr2:179438081;179438080;179438079 |
| 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/A | rs770306141  |
-1.917 | 0.999 | D | 0.7 | 0.524 | 0.444505407614 | gnomAD-2.1.1 | 5.34E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.12E-05 | 0 |
| E/A | rs770306141 |
-1.917 | 0.999 | D | 0.7 | 0.524 | 0.444505407614 | 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/A | rs770306141 |
-1.917 | 0.999 | D | 0.7 | 0.524 | 0.444505407614 | gnomAD-4.0.0 | 6.57514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4708E-05 | 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 | 0.8748 | likely_pathogenic | 0.8514 | pathogenic | -1.299 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | D | 0.528608065 | None | None | N |
| E/C | 0.9861 | likely_pathogenic | 0.9831 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/D | 0.7936 | likely_pathogenic | 0.7648 | pathogenic | -1.846 | Destabilizing | 0.999 | D | 0.65 | neutral | N | 0.483107165 | None | None | N |
| E/F | 0.9876 | likely_pathogenic | 0.984 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/G | 0.9168 | likely_pathogenic | 0.8815 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.516063672 | None | None | N |
| E/H | 0.9721 | likely_pathogenic | 0.9681 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/I | 0.9699 | likely_pathogenic | 0.9624 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/K | 0.9408 | likely_pathogenic | 0.9246 | pathogenic | -1.509 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | N | 0.504463423 | None | None | N |
| E/L | 0.9557 | likely_pathogenic | 0.9435 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/M | 0.9484 | likely_pathogenic | 0.9371 | pathogenic | 0.468 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/N | 0.9618 | likely_pathogenic | 0.9557 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| E/Q | 0.6237 | likely_pathogenic | 0.6086 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.483218842 | None | None | N |
| E/R | 0.963 | likely_pathogenic | 0.9532 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/S | 0.8819 | likely_pathogenic | 0.8562 | pathogenic | -2.322 | Highly Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| E/T | 0.9505 | likely_pathogenic | 0.9379 | pathogenic | -1.964 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/V | 0.9241 | likely_pathogenic | 0.9057 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.523937257 | None | None | N |
| E/W | 0.9961 | likely_pathogenic | 0.9949 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/Y | 0.9827 | likely_pathogenic | 0.9766 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.785 | 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.