Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24135 | 72628;72629;72630 | chr2:178573729;178573728;178573727 | chr2:179438456;179438455;179438454 |
| N2AB | 22494 | 67705;67706;67707 | chr2:178573729;178573728;178573727 | chr2:179438456;179438455;179438454 |
| N2A | 21567 | 64924;64925;64926 | chr2:178573729;178573728;178573727 | chr2:179438456;179438455;179438454 |
| N2B | 15070 | 45433;45434;45435 | chr2:178573729;178573728;178573727 | chr2:179438456;179438455;179438454 |
| Novex-1 | 15195 | 45808;45809;45810 | chr2:178573729;178573728;178573727 | chr2:179438456;179438455;179438454 |
| Novex-2 | 15262 | 46009;46010;46011 | chr2:178573729;178573728;178573727 | chr2:179438456;179438455;179438454 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs748407318  |
-0.55 | 0.009 | N | 0.207 | 0.205 | 0.327419511103 | gnomAD-2.1.1 | 9.88E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.12E-05 | None | 0 | None | 0 | 1.04E-05 | 0 |
| V/M | rs748407318 |
-0.55 | 0.009 | N | 0.207 | 0.205 | 0.327419511103 | gnomAD-4.0.0 | 6.41099E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.55271E-05 | None | 0 | 0 | 6.4505E-06 | 0 | 1.72992E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.365 | ambiguous | 0.3723 | ambiguous | -1.182 | Destabilizing | 0.124 | N | 0.492 | neutral | N | 0.484628102 | None | None | N |
| V/C | 0.7821 | likely_pathogenic | 0.7891 | pathogenic | -0.967 | Destabilizing | 0.968 | D | 0.567 | neutral | None | None | None | None | N |
| V/D | 0.7405 | likely_pathogenic | 0.755 | pathogenic | -0.897 | Destabilizing | 0.726 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/E | 0.5699 | likely_pathogenic | 0.6074 | pathogenic | -0.949 | Destabilizing | 0.667 | D | 0.651 | neutral | N | 0.512202558 | None | None | N |
| V/F | 0.3437 | ambiguous | 0.3602 | ambiguous | -1.172 | Destabilizing | 0.567 | D | 0.578 | neutral | None | None | None | None | N |
| V/G | 0.4026 | ambiguous | 0.4033 | ambiguous | -1.428 | Destabilizing | 0.497 | N | 0.705 | prob.neutral | N | 0.519319356 | None | None | N |
| V/H | 0.8081 | likely_pathogenic | 0.822 | pathogenic | -1.048 | Destabilizing | 0.968 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/I | 0.0759 | likely_benign | 0.0729 | benign | -0.635 | Destabilizing | 0.005 | N | 0.243 | neutral | None | None | None | None | N |
| V/K | 0.4641 | ambiguous | 0.4981 | ambiguous | -0.876 | Destabilizing | 0.567 | D | 0.647 | neutral | None | None | None | None | N |
| V/L | 0.2635 | likely_benign | 0.273 | benign | -0.635 | Destabilizing | 0.02 | N | 0.337 | neutral | N | 0.513153127 | None | None | N |
| V/M | 0.1508 | likely_benign | 0.1686 | benign | -0.466 | Destabilizing | 0.009 | N | 0.207 | neutral | N | 0.497745607 | None | None | N |
| V/N | 0.5561 | ambiguous | 0.5557 | ambiguous | -0.623 | Destabilizing | 0.726 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/P | 0.7339 | likely_pathogenic | 0.7108 | pathogenic | -0.782 | Destabilizing | 0.89 | D | 0.669 | neutral | None | None | None | None | N |
| V/Q | 0.5058 | ambiguous | 0.5442 | ambiguous | -0.864 | Destabilizing | 0.567 | D | 0.675 | prob.neutral | None | None | None | None | N |
| V/R | 0.4881 | ambiguous | 0.5097 | ambiguous | -0.403 | Destabilizing | 0.567 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/S | 0.5005 | ambiguous | 0.4991 | ambiguous | -1.135 | Destabilizing | 0.567 | D | 0.559 | neutral | None | None | None | None | N |
| V/T | 0.3193 | likely_benign | 0.3198 | benign | -1.08 | Destabilizing | 0.272 | N | 0.461 | neutral | None | None | None | None | N |
| V/W | 0.9041 | likely_pathogenic | 0.9144 | pathogenic | -1.282 | Destabilizing | 0.968 | D | 0.75 | deleterious | None | None | None | None | N |
| V/Y | 0.704 | likely_pathogenic | 0.7166 | pathogenic | -0.97 | Destabilizing | 0.726 | D | 0.575 | 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.