Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6516 | 19771;19772;19773 | chr2:178728278;178728277;178728276 | chr2:179593005;179593004;179593003 |
| N2AB | 6199 | 18820;18821;18822 | chr2:178728278;178728277;178728276 | chr2:179593005;179593004;179593003 |
| N2A | 5272 | 16039;16040;16041 | chr2:178728278;178728277;178728276 | chr2:179593005;179593004;179593003 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1469339610  |
None | 0.999 | D | 0.612 | 0.509 | 0.54848712621 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/E | rs1469339610 |
None | 0.999 | D | 0.612 | 0.509 | 0.54848712621 | gnomAD-4.0.0 | 6.57333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-05 | 0 | 0 |
| K/M | rs199796249 |
-0.182 | 1.0 | N | 0.737 | 0.554 | None | gnomAD-2.1.1 | 1.50381E-04 | None | None | None | None | N | None | 0 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.06002E-04 | 2.82008E-04 |
| K/M | rs199796249 |
-0.182 | 1.0 | N | 0.737 | 0.554 | None | gnomAD-3.1.2 | 2.4979E-04 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.44086E-04 | 0 | 0 |
| K/M | rs199796249 |
-0.182 | 1.0 | N | 0.737 | 0.554 | None | gnomAD-4.0.0 | 3.69456E-04 | None | None | None | None | N | None | 1.33547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.59507E-04 | 0 | 8.49087E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9321 | likely_pathogenic | 0.9518 | pathogenic | -1.184 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| K/C | 0.9384 | likely_pathogenic | 0.9579 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| K/D | 0.9931 | likely_pathogenic | 0.9947 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| K/E | 0.8255 | likely_pathogenic | 0.8708 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.612 | neutral | D | 0.531918839 | None | None | N |
| K/F | 0.9741 | likely_pathogenic | 0.981 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| K/G | 0.9767 | likely_pathogenic | 0.982 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/H | 0.7458 | likely_pathogenic | 0.7817 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/I | 0.8177 | likely_pathogenic | 0.851 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| K/L | 0.7884 | likely_pathogenic | 0.8359 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/M | 0.7009 | likely_pathogenic | 0.7759 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.505167304 | None | None | N |
| K/N | 0.9698 | likely_pathogenic | 0.9794 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.52014446 | None | None | N |
| K/P | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/Q | 0.4839 | ambiguous | 0.5563 | ambiguous | -1.094 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.478820615 | None | None | N |
| K/R | 0.1084 | likely_benign | 0.1112 | benign | -0.952 | Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.502485055 | None | None | N |
| K/S | 0.9594 | likely_pathogenic | 0.9717 | pathogenic | -1.956 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| K/T | 0.8885 | likely_pathogenic | 0.9114 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.508534665 | None | None | N |
| K/V | 0.7983 | likely_pathogenic | 0.833 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/W | 0.9645 | likely_pathogenic | 0.97 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| K/Y | 0.9428 | likely_pathogenic | 0.9553 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.79 | 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.