Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20092 | 60499;60500;60501 | chr2:178591451;178591450;178591449 | chr2:179456178;179456177;179456176 |
| N2AB | 18451 | 55576;55577;55578 | chr2:178591451;178591450;178591449 | chr2:179456178;179456177;179456176 |
| N2A | 17524 | 52795;52796;52797 | chr2:178591451;178591450;178591449 | chr2:179456178;179456177;179456176 |
| N2B | 11027 | 33304;33305;33306 | chr2:178591451;178591450;178591449 | chr2:179456178;179456177;179456176 |
| Novex-1 | 11152 | 33679;33680;33681 | chr2:178591451;178591450;178591449 | chr2:179456178;179456177;179456176 |
| Novex-2 | 11219 | 33880;33881;33882 | chr2:178591451;178591450;178591449 | chr2:179456178;179456177;179456176 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1276745153  |
-0.506 | 1.0 | N | 0.549 | 0.434 | 0.440498838766 | gnomAD-2.1.1 | 4.26E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.24E-06 | 0 |
| A/G | rs1276745153 |
-0.506 | 1.0 | N | 0.549 | 0.434 | 0.440498838766 | gnomAD-4.0.0 | 6.91419E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04231E-07 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.707 | 0.433 | 0.350088858571 | gnomAD-4.0.0 | 1.63377E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.93043E-05 | 0 | 0 | 0 | 0 |
| A/V | rs1276745153 |
None | 1.0 | N | 0.637 | 0.425 | 0.380394304726 | 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 |
| A/V | rs1276745153 |
None | 1.0 | N | 0.637 | 0.425 | 0.380394304726 | gnomAD-4.0.0 | 1.2513E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70371E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8516 | likely_pathogenic | 0.8133 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/D | 0.9439 | likely_pathogenic | 0.9356 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.489889616 | None | None | N |
| A/E | 0.806 | likely_pathogenic | 0.7764 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/F | 0.9185 | likely_pathogenic | 0.9038 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/G | 0.4782 | ambiguous | 0.438 | ambiguous | -0.786 | Destabilizing | 1.0 | D | 0.549 | neutral | N | 0.512855716 | None | None | N |
| A/H | 0.9263 | likely_pathogenic | 0.9187 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/I | 0.787 | likely_pathogenic | 0.745 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/K | 0.8755 | likely_pathogenic | 0.8596 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/L | 0.7546 | likely_pathogenic | 0.7445 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| A/M | 0.7169 | likely_pathogenic | 0.6721 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/N | 0.8334 | likely_pathogenic | 0.8201 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/P | 0.9607 | likely_pathogenic | 0.9526 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.464023453 | None | None | N |
| A/Q | 0.7679 | likely_pathogenic | 0.747 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/R | 0.8257 | likely_pathogenic | 0.8136 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/S | 0.2078 | likely_benign | 0.1894 | benign | -0.841 | Destabilizing | 1.0 | D | 0.563 | neutral | N | 0.471024892 | None | None | N |
| A/T | 0.4696 | ambiguous | 0.4154 | ambiguous | -0.914 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.461554691 | None | None | N |
| A/V | 0.4772 | ambiguous | 0.4108 | ambiguous | -0.563 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.497727022 | None | None | N |
| A/W | 0.9891 | likely_pathogenic | 0.9867 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/Y | 0.9337 | likely_pathogenic | 0.9275 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.835 | 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.