Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16582 | 49969;49970;49971 | chr2:178612977;178612976;178612975 | chr2:179477704;179477703;179477702 |
| N2AB | 14941 | 45046;45047;45048 | chr2:178612977;178612976;178612975 | chr2:179477704;179477703;179477702 |
| N2A | 14014 | 42265;42266;42267 | chr2:178612977;178612976;178612975 | chr2:179477704;179477703;179477702 |
| N2B | 7517 | 22774;22775;22776 | chr2:178612977;178612976;178612975 | chr2:179477704;179477703;179477702 |
| Novex-1 | 7642 | 23149;23150;23151 | chr2:178612977;178612976;178612975 | chr2:179477704;179477703;179477702 |
| Novex-2 | 7709 | 23350;23351;23352 | chr2:178612977;178612976;178612975 | chr2:179477704;179477703;179477702 |
| 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 | rs760072934  |
0.328 | 1.0 | N | 0.715 | 0.347 | 0.272639205421 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs760072934 |
0.328 | 1.0 | N | 0.715 | 0.347 | 0.272639205421 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| K/N | rs760072934 |
0.328 | 1.0 | N | 0.715 | 0.347 | 0.272639205421 | gnomAD-4.0.0 | 3.10049E-06 | None | None | None | None | N | None | 6.68163E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs1175062582 |
0.127 | 1.0 | N | 0.676 | 0.505 | 0.326616659874 | 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/T | rs1175062582 |
0.127 | 1.0 | N | 0.676 | 0.505 | 0.326616659874 | gnomAD-4.0.0 | 1.59344E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86175E-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 | 0.4741 | ambiguous | 0.5805 | pathogenic | 0.085 | Stabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| K/C | 0.8705 | likely_pathogenic | 0.8662 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| K/D | 0.7568 | likely_pathogenic | 0.862 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/E | 0.3787 | ambiguous | 0.5477 | ambiguous | 0.008 | Stabilizing | 0.999 | D | 0.618 | neutral | N | 0.471287266 | None | None | N |
| K/F | 0.9278 | likely_pathogenic | 0.9451 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| K/G | 0.662 | likely_pathogenic | 0.7491 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/H | 0.5389 | ambiguous | 0.5659 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/I | 0.606 | likely_pathogenic | 0.6892 | pathogenic | 0.584 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| K/L | 0.5743 | likely_pathogenic | 0.6533 | pathogenic | 0.584 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/M | 0.476 | ambiguous | 0.5888 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.587 | neutral | N | 0.467658966 | None | None | N |
| K/N | 0.6667 | likely_pathogenic | 0.7795 | pathogenic | 0.313 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.479068746 | None | None | N |
| K/P | 0.5701 | likely_pathogenic | 0.6256 | pathogenic | 0.446 | Stabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| K/Q | 0.2685 | likely_benign | 0.3218 | benign | 0.166 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.481983794 | None | None | N |
| K/R | 0.1069 | likely_benign | 0.101 | benign | 0.011 | Stabilizing | 0.999 | D | 0.54 | neutral | N | 0.483310471 | None | None | N |
| K/S | 0.6279 | likely_pathogenic | 0.7369 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| K/T | 0.346 | ambiguous | 0.4679 | ambiguous | 0.041 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.480795349 | None | None | N |
| K/V | 0.4829 | ambiguous | 0.5598 | ambiguous | 0.446 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/W | 0.9162 | likely_pathogenic | 0.9278 | pathogenic | -0.076 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8784 | likely_pathogenic | 0.9004 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.644 | 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.