Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17061 | 51406;51407;51408 | chr2:178610345;178610344;178610343 | chr2:179475072;179475071;179475070 |
| N2AB | 15420 | 46483;46484;46485 | chr2:178610345;178610344;178610343 | chr2:179475072;179475071;179475070 |
| N2A | 14493 | 43702;43703;43704 | chr2:178610345;178610344;178610343 | chr2:179475072;179475071;179475070 |
| N2B | 7996 | 24211;24212;24213 | chr2:178610345;178610344;178610343 | chr2:179475072;179475071;179475070 |
| Novex-1 | 8121 | 24586;24587;24588 | chr2:178610345;178610344;178610343 | chr2:179475072;179475071;179475070 |
| Novex-2 | 8188 | 24787;24788;24789 | chr2:178610345;178610344;178610343 | chr2:179475072;179475071;179475070 |
| 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/N | rs972424734  |
None | 1.0 | N | 0.731 | 0.278 | 0.191931220699 | gnomAD-4.0.0 | 6.84631E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.999E-07 | 0 | 0 |
| K/R | rs1275839518 |
0.021 | 0.999 | N | 0.533 | 0.261 | 0.250579442822 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| K/R | rs1275839518 |
0.021 | 0.999 | N | 0.533 | 0.261 | 0.250579442822 | gnomAD-4.0.0 | 3.18711E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72534E-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 | 0.6774 | likely_pathogenic | 0.6948 | pathogenic | -0.292 | Destabilizing | 0.999 | D | 0.626 | neutral | None | None | None | None | N |
| K/C | 0.9089 | likely_pathogenic | 0.9115 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/D | 0.9383 | likely_pathogenic | 0.9475 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/E | 0.7518 | likely_pathogenic | 0.7657 | pathogenic | -0.455 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.472387285 | None | None | N |
| K/F | 0.9775 | likely_pathogenic | 0.9813 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| K/G | 0.7897 | likely_pathogenic | 0.8069 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| K/H | 0.667 | likely_pathogenic | 0.6907 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| K/I | 0.8589 | likely_pathogenic | 0.885 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/L | 0.8068 | likely_pathogenic | 0.8377 | pathogenic | 0.255 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| K/M | 0.7337 | likely_pathogenic | 0.7735 | pathogenic | 0.463 | Stabilizing | 1.0 | D | 0.601 | neutral | D | 0.618821529 | None | None | N |
| K/N | 0.8695 | likely_pathogenic | 0.892 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.473466138 | None | None | N |
| K/P | 0.9088 | likely_pathogenic | 0.913 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| K/Q | 0.3578 | ambiguous | 0.3675 | ambiguous | -0.491 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.46523672 | None | None | N |
| K/R | 0.0919 | likely_benign | 0.0864 | benign | -0.209 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.47836658 | None | None | N |
| K/S | 0.7718 | likely_pathogenic | 0.8009 | pathogenic | -0.681 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| K/T | 0.6531 | likely_pathogenic | 0.7026 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.503247505 | None | None | N |
| K/V | 0.7564 | likely_pathogenic | 0.7886 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/W | 0.9653 | likely_pathogenic | 0.9682 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/Y | 0.9283 | likely_pathogenic | 0.9417 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.671 | neutral | 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.