Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20394 | 61405;61406;61407 | chr2:178590545;178590544;178590543 | chr2:179455272;179455271;179455270 |
| N2AB | 18753 | 56482;56483;56484 | chr2:178590545;178590544;178590543 | chr2:179455272;179455271;179455270 |
| N2A | 17826 | 53701;53702;53703 | chr2:178590545;178590544;178590543 | chr2:179455272;179455271;179455270 |
| N2B | 11329 | 34210;34211;34212 | chr2:178590545;178590544;178590543 | chr2:179455272;179455271;179455270 |
| Novex-1 | 11454 | 34585;34586;34587 | chr2:178590545;178590544;178590543 | chr2:179455272;179455271;179455270 |
| Novex-2 | 11521 | 34786;34787;34788 | chr2:178590545;178590544;178590543 | chr2:179455272;179455271;179455270 |
| 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 | rs1488885188  |
0.15 | 0.999 | N | 0.61 | 0.404 | 0.297718772494 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.53E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs1488885188 |
0.15 | 0.999 | N | 0.61 | 0.404 | 0.297718772494 | gnomAD-4.0.0 | 2.0538E-06 | None | None | None | None | N | None | 5.98408E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99798E-07 | 0 | 0 |
| K/N | rs1251147363 |
-0.274 | 1.0 | N | 0.745 | 0.388 | 0.304108284078 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| K/N | rs1251147363 |
-0.274 | 1.0 | N | 0.745 | 0.388 | 0.304108284078 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| K/N | rs1251147363 |
-0.274 | 1.0 | N | 0.745 | 0.388 | 0.304108284078 | gnomAD-4.0.0 | 6.201E-06 | None | None | None | None | N | None | 1.33618E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63162E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7803 | likely_pathogenic | 0.7252 | pathogenic | -0.307 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| K/C | 0.9232 | likely_pathogenic | 0.9152 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| K/D | 0.9658 | likely_pathogenic | 0.9495 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/E | 0.7468 | likely_pathogenic | 0.6149 | pathogenic | -0.121 | Destabilizing | 0.999 | D | 0.61 | neutral | N | 0.495738015 | None | None | N |
| K/F | 0.9771 | likely_pathogenic | 0.973 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| K/G | 0.925 | likely_pathogenic | 0.895 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| K/H | 0.7602 | likely_pathogenic | 0.728 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/I | 0.8505 | likely_pathogenic | 0.8137 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/L | 0.7998 | likely_pathogenic | 0.7716 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| K/M | 0.7442 | likely_pathogenic | 0.6827 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.525484919 | None | None | N |
| K/N | 0.9406 | likely_pathogenic | 0.9124 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.494094622 | None | None | N |
| K/P | 0.6667 | likely_pathogenic | 0.6559 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| K/Q | 0.4469 | ambiguous | 0.3662 | ambiguous | -0.307 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.512939696 | None | None | N |
| K/R | 0.1086 | likely_benign | 0.1025 | benign | -0.249 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.491409631 | None | None | N |
| K/S | 0.9078 | likely_pathogenic | 0.8631 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| K/T | 0.7709 | likely_pathogenic | 0.6894 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.470456959 | None | None | N |
| K/V | 0.7615 | likely_pathogenic | 0.726 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| K/W | 0.9737 | likely_pathogenic | 0.9691 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| K/Y | 0.9402 | likely_pathogenic | 0.9273 | pathogenic | 0.033 | Stabilizing | 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.