Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21619 | 65080;65081;65082 | chr2:178584786;178584785;178584784 | chr2:179449513;179449512;179449511 |
| N2AB | 19978 | 60157;60158;60159 | chr2:178584786;178584785;178584784 | chr2:179449513;179449512;179449511 |
| N2A | 19051 | 57376;57377;57378 | chr2:178584786;178584785;178584784 | chr2:179449513;179449512;179449511 |
| N2B | 12554 | 37885;37886;37887 | chr2:178584786;178584785;178584784 | chr2:179449513;179449512;179449511 |
| Novex-1 | 12679 | 38260;38261;38262 | chr2:178584786;178584785;178584784 | chr2:179449513;179449512;179449511 |
| Novex-2 | 12746 | 38461;38462;38463 | chr2:178584786;178584785;178584784 | chr2:179449513;179449512;179449511 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1486149342  |
-0.126 | 0.999 | D | 0.826 | 0.544 | 0.803198302387 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| C/R | rs1486149342 |
-0.126 | 0.999 | D | 0.826 | 0.544 | 0.803198302387 | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85971E-06 | 0 | 0 |
| C/W | None | None | 1.0 | N | 0.737 | 0.408 | 0.460616323599 | gnomAD-4.0.0 | 1.59185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6633 | likely_pathogenic | 0.6418 | pathogenic | -1.33 | Destabilizing | 0.982 | D | 0.626 | neutral | None | None | None | None | N |
| C/D | 0.9916 | likely_pathogenic | 0.9902 | pathogenic | 0.733 | Stabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| C/E | 0.9929 | likely_pathogenic | 0.9908 | pathogenic | 0.836 | Stabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| C/F | 0.39 | ambiguous | 0.3594 | ambiguous | -0.929 | Destabilizing | 0.135 | N | 0.505 | neutral | N | 0.462028086 | None | None | N |
| C/G | 0.5132 | ambiguous | 0.5238 | ambiguous | -1.604 | Destabilizing | 0.999 | D | 0.775 | deleterious | N | 0.499917519 | None | None | N |
| C/H | 0.9281 | likely_pathogenic | 0.91 | pathogenic | -1.482 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| C/I | 0.6694 | likely_pathogenic | 0.6362 | pathogenic | -0.643 | Destabilizing | 0.985 | D | 0.724 | prob.delet. | None | None | None | None | N |
| C/K | 0.9926 | likely_pathogenic | 0.99 | pathogenic | -0.028 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| C/L | 0.6308 | likely_pathogenic | 0.6264 | pathogenic | -0.643 | Destabilizing | 0.931 | D | 0.657 | neutral | None | None | None | None | N |
| C/M | 0.7737 | likely_pathogenic | 0.7641 | pathogenic | -0.133 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/N | 0.9395 | likely_pathogenic | 0.9237 | pathogenic | -0.19 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| C/P | 0.9957 | likely_pathogenic | 0.9945 | pathogenic | -0.846 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| C/Q | 0.9622 | likely_pathogenic | 0.9522 | pathogenic | 0.01 | Stabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| C/R | 0.9506 | likely_pathogenic | 0.945 | pathogenic | -0.102 | Destabilizing | 0.999 | D | 0.826 | deleterious | D | 0.522794714 | None | None | N |
| C/S | 0.6477 | likely_pathogenic | 0.6385 | pathogenic | -0.766 | Destabilizing | 0.997 | D | 0.722 | prob.delet. | N | 0.480407685 | None | None | N |
| C/T | 0.7587 | likely_pathogenic | 0.7339 | pathogenic | -0.457 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/V | 0.546 | ambiguous | 0.5222 | ambiguous | -0.846 | Destabilizing | 0.985 | D | 0.687 | prob.neutral | None | None | None | None | N |
| C/W | 0.8649 | likely_pathogenic | 0.8341 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.496296668 | None | None | N |
| C/Y | 0.6542 | likely_pathogenic | 0.5977 | pathogenic | -0.802 | Destabilizing | 0.989 | D | 0.741 | deleterious | N | 0.464276171 | 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.