Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18747 | 56464;56465;56466 | chr2:178599662;178599661;178599660 | chr2:179464389;179464388;179464387 |
| N2AB | 17106 | 51541;51542;51543 | chr2:178599662;178599661;178599660 | chr2:179464389;179464388;179464387 |
| N2A | 16179 | 48760;48761;48762 | chr2:178599662;178599661;178599660 | chr2:179464389;179464388;179464387 |
| N2B | 9682 | 29269;29270;29271 | chr2:178599662;178599661;178599660 | chr2:179464389;179464388;179464387 |
| Novex-1 | 9807 | 29644;29645;29646 | chr2:178599662;178599661;178599660 | chr2:179464389;179464388;179464387 |
| Novex-2 | 9874 | 29845;29846;29847 | chr2:178599662;178599661;178599660 | chr2:179464389;179464388;179464387 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | None | None | 1.0 | N | 0.819 | 0.478 | 0.609617904835 | gnomAD-4.0.0 | 1.59293E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86125E-06 | 0 | 0 |
| C/Y | rs2052747446  |
None | 1.0 | N | 0.855 | 0.504 | 0.559961094632 | gnomAD-4.0.0 | 1.77983E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33945E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4915 | ambiguous | 0.4417 | ambiguous | -1.727 | Destabilizing | 0.998 | D | 0.647 | neutral | None | None | None | None | N |
| C/D | 0.9871 | likely_pathogenic | 0.9851 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| C/E | 0.9936 | likely_pathogenic | 0.9922 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| C/F | 0.7153 | likely_pathogenic | 0.6189 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.481506776 | None | None | N |
| C/G | 0.4916 | ambiguous | 0.415 | ambiguous | -2.119 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.429309874 | None | None | N |
| C/H | 0.9734 | likely_pathogenic | 0.9635 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| C/I | 0.7165 | likely_pathogenic | 0.6464 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| C/K | 0.9971 | likely_pathogenic | 0.9962 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| C/L | 0.7202 | likely_pathogenic | 0.6422 | pathogenic | -0.662 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| C/M | 0.8274 | likely_pathogenic | 0.7879 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| C/N | 0.9382 | likely_pathogenic | 0.9291 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/P | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| C/Q | 0.9817 | likely_pathogenic | 0.9769 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| C/R | 0.9816 | likely_pathogenic | 0.9759 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.47735175 | None | None | N |
| C/S | 0.4939 | ambiguous | 0.4642 | ambiguous | -2.096 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.445719334 | None | None | N |
| C/T | 0.5667 | likely_pathogenic | 0.5256 | ambiguous | -1.641 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| C/V | 0.5078 | ambiguous | 0.4594 | ambiguous | -0.993 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| C/W | 0.9668 | likely_pathogenic | 0.954 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.461083711 | None | None | N |
| C/Y | 0.8982 | likely_pathogenic | 0.8544 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.489126182 | 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.