Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24104 | 72535;72536;72537 | chr2:178573822;178573821;178573820 | chr2:179438549;179438548;179438547 |
| N2AB | 22463 | 67612;67613;67614 | chr2:178573822;178573821;178573820 | chr2:179438549;179438548;179438547 |
| N2A | 21536 | 64831;64832;64833 | chr2:178573822;178573821;178573820 | chr2:179438549;179438548;179438547 |
| N2B | 15039 | 45340;45341;45342 | chr2:178573822;178573821;178573820 | chr2:179438549;179438548;179438547 |
| Novex-1 | 15164 | 45715;45716;45717 | chr2:178573822;178573821;178573820 | chr2:179438549;179438548;179438547 |
| Novex-2 | 15231 | 45916;45917;45918 | chr2:178573822;178573821;178573820 | chr2:179438549;179438548;179438547 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs753506004  |
-0.214 | 0.998 | D | 0.682 | 0.533 | 0.713088026556 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 2.85E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| A/V | rs753506004 |
-0.214 | 0.998 | D | 0.682 | 0.533 | 0.713088026556 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs753506004 |
-0.214 | 0.998 | D | 0.682 | 0.533 | 0.713088026556 | gnomAD-4.0.0 | 2.56945E-06 | None | None | None | None | N | None | 0 | 1.69947E-05 | None | 0 | 0 | None | 0 | 0 | 2.40105E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.725 | likely_pathogenic | 0.7229 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -2.666 | Highly Destabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| A/E | 0.9964 | likely_pathogenic | 0.9948 | pathogenic | -2.584 | Highly Destabilizing | 0.999 | D | 0.788 | deleterious | D | 0.639030982 | None | None | N |
| A/F | 0.9753 | likely_pathogenic | 0.9743 | pathogenic | -1.063 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| A/G | 0.5638 | ambiguous | 0.5441 | ambiguous | -1.664 | Destabilizing | 0.252 | N | 0.379 | neutral | D | 0.579395027 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/I | 0.6434 | likely_pathogenic | 0.6725 | pathogenic | -0.375 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| A/K | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.625 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| A/L | 0.5384 | ambiguous | 0.5435 | ambiguous | -0.375 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/M | 0.805 | likely_pathogenic | 0.8107 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/N | 0.9956 | likely_pathogenic | 0.9939 | pathogenic | -1.679 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| A/P | 0.9975 | likely_pathogenic | 0.9964 | pathogenic | -0.641 | Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.639030982 | None | None | N |
| A/Q | 0.9929 | likely_pathogenic | 0.9896 | pathogenic | -1.703 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| A/R | 0.9958 | likely_pathogenic | 0.9935 | pathogenic | -1.395 | Destabilizing | 0.998 | D | 0.808 | deleterious | None | None | None | None | N |
| A/S | 0.5584 | ambiguous | 0.5391 | ambiguous | -1.993 | Destabilizing | 0.977 | D | 0.567 | neutral | D | 0.613089262 | None | None | N |
| A/T | 0.5736 | likely_pathogenic | 0.5623 | ambiguous | -1.817 | Destabilizing | 0.997 | D | 0.735 | prob.delet. | D | 0.622406208 | None | None | N |
| A/V | 0.2922 | likely_benign | 0.3131 | benign | -0.641 | Destabilizing | 0.998 | D | 0.682 | prob.neutral | D | 0.537876292 | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/Y | 0.995 | likely_pathogenic | 0.9942 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.799 | deleterious | 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.