Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24279 | 73060;73061;73062 | chr2:178573297;178573296;178573295 | chr2:179438024;179438023;179438022 |
| N2AB | 22638 | 68137;68138;68139 | chr2:178573297;178573296;178573295 | chr2:179438024;179438023;179438022 |
| N2A | 21711 | 65356;65357;65358 | chr2:178573297;178573296;178573295 | chr2:179438024;179438023;179438022 |
| N2B | 15214 | 45865;45866;45867 | chr2:178573297;178573296;178573295 | chr2:179438024;179438023;179438022 |
| Novex-1 | 15339 | 46240;46241;46242 | chr2:178573297;178573296;178573295 | chr2:179438024;179438023;179438022 |
| Novex-2 | 15406 | 46441;46442;46443 | chr2:178573297;178573296;178573295 | chr2:179438024;179438023;179438022 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 1.0 | N | 0.411 | 0.288 | 0.156986980423 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/G | rs974475286  |
-0.168 | 1.0 | N | 0.725 | 0.483 | 0.331365685468 | gnomAD-2.1.1 | 8.84E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.9E-05 | 0 |
| D/G | rs974475286 |
-0.168 | 1.0 | N | 0.725 | 0.483 | 0.331365685468 | gnomAD-4.0.0 | 5.00913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.95255E-06 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.663 | 0.431 | 0.365892764245 | gnomAD-4.0.0 | 3.34E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.98408E-06 | 1.5466E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4879 | ambiguous | 0.3806 | ambiguous | 0.234 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.520769745 | None | None | N |
| D/C | 0.9047 | likely_pathogenic | 0.839 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/E | 0.3565 | ambiguous | 0.2338 | benign | -0.347 | Destabilizing | 1.0 | D | 0.411 | neutral | N | 0.452640599 | None | None | N |
| D/F | 0.9009 | likely_pathogenic | 0.8448 | pathogenic | 0.818 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| D/G | 0.4832 | ambiguous | 0.3691 | ambiguous | -0.078 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.520577744 | None | None | N |
| D/H | 0.7324 | likely_pathogenic | 0.6485 | pathogenic | 1.065 | Stabilizing | 1.0 | D | 0.663 | neutral | N | 0.483877179 | None | None | N |
| D/I | 0.8045 | likely_pathogenic | 0.7098 | pathogenic | 1.04 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| D/K | 0.8717 | likely_pathogenic | 0.8055 | pathogenic | 0.468 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/L | 0.7889 | likely_pathogenic | 0.7129 | pathogenic | 1.04 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/M | 0.9016 | likely_pathogenic | 0.8418 | pathogenic | 0.855 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/N | 0.3073 | likely_benign | 0.2246 | benign | -0.301 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.467948517 | None | None | N |
| D/P | 0.9592 | likely_pathogenic | 0.9431 | pathogenic | 0.797 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/Q | 0.769 | likely_pathogenic | 0.6697 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| D/R | 0.8718 | likely_pathogenic | 0.821 | pathogenic | 0.789 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/S | 0.3383 | likely_benign | 0.2567 | benign | -0.42 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| D/T | 0.619 | likely_pathogenic | 0.5016 | ambiguous | -0.132 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/V | 0.5962 | likely_pathogenic | 0.484 | ambiguous | 0.797 | Stabilizing | 1.0 | D | 0.779 | deleterious | N | 0.505936366 | None | None | N |
| D/W | 0.9813 | likely_pathogenic | 0.9721 | pathogenic | 0.977 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5973 | likely_pathogenic | 0.5159 | ambiguous | 1.109 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.480736854 | 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.