Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21807 | 65644;65645;65646 | chr2:178583763;178583762;178583761 | chr2:179448490;179448489;179448488 |
| N2AB | 20166 | 60721;60722;60723 | chr2:178583763;178583762;178583761 | chr2:179448490;179448489;179448488 |
| N2A | 19239 | 57940;57941;57942 | chr2:178583763;178583762;178583761 | chr2:179448490;179448489;179448488 |
| N2B | 12742 | 38449;38450;38451 | chr2:178583763;178583762;178583761 | chr2:179448490;179448489;179448488 |
| Novex-1 | 12867 | 38824;38825;38826 | chr2:178583763;178583762;178583761 | chr2:179448490;179448489;179448488 |
| Novex-2 | 12934 | 39025;39026;39027 | chr2:178583763;178583762;178583761 | chr2:179448490;179448489;179448488 |
| 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 | rs1199010062  |
-0.492 | 0.998 | N | 0.801 | 0.416 | 0.815173069335 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14969E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | rs1199010062 |
-0.492 | 0.998 | N | 0.801 | 0.416 | 0.815173069335 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs1199010062 |
-0.492 | 0.998 | N | 0.801 | 0.416 | 0.815173069335 | gnomAD-4.0.0 | 3.72331E-06 | None | None | None | None | I | None | 5.34488E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.20449E-05 | 0 |
| C/Y | rs749514907 |
-1.112 | 0.998 | N | 0.752 | 0.378 | 0.70956276702 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.32E-05 | None | 0 | 1.8E-05 | 0 |
| C/Y | rs749514907 |
-1.112 | 0.998 | N | 0.752 | 0.378 | 0.70956276702 | gnomAD-4.0.0 | 4.79661E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80046E-06 | 5.82194E-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 | 0.6926 | likely_pathogenic | 0.6328 | pathogenic | -1.599 | Destabilizing | 0.931 | D | 0.451 | neutral | None | None | None | None | I |
| C/D | 0.9777 | likely_pathogenic | 0.9634 | pathogenic | 0.022 | Stabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | I |
| C/E | 0.972 | likely_pathogenic | 0.9582 | pathogenic | 0.106 | Stabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | I |
| C/F | 0.4363 | ambiguous | 0.3815 | ambiguous | -1.048 | Destabilizing | 0.994 | D | 0.734 | prob.delet. | N | 0.472161571 | None | None | I |
| C/G | 0.6623 | likely_pathogenic | 0.5684 | pathogenic | -1.881 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | N | 0.481444416 | None | None | I |
| C/H | 0.8559 | likely_pathogenic | 0.8173 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| C/I | 0.5142 | ambiguous | 0.4481 | ambiguous | -0.887 | Destabilizing | 0.942 | D | 0.487 | neutral | None | None | None | None | I |
| C/K | 0.9558 | likely_pathogenic | 0.9414 | pathogenic | -0.714 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | I |
| C/L | 0.4562 | ambiguous | 0.4394 | ambiguous | -0.887 | Destabilizing | 0.871 | D | 0.498 | neutral | None | None | None | None | I |
| C/M | 0.7119 | likely_pathogenic | 0.679 | pathogenic | -0.032 | Destabilizing | 0.996 | D | 0.675 | neutral | None | None | None | None | I |
| C/N | 0.899 | likely_pathogenic | 0.8526 | pathogenic | -0.707 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | I |
| C/P | 0.9874 | likely_pathogenic | 0.9792 | pathogenic | -1.099 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | I |
| C/Q | 0.8923 | likely_pathogenic | 0.854 | pathogenic | -0.616 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | I |
| C/R | 0.8019 | likely_pathogenic | 0.7519 | pathogenic | -0.515 | Destabilizing | 0.998 | D | 0.801 | deleterious | N | 0.491026294 | None | None | I |
| C/S | 0.7177 | likely_pathogenic | 0.6316 | pathogenic | -1.274 | Destabilizing | 0.98 | D | 0.557 | neutral | N | 0.471213746 | None | None | I |
| C/T | 0.7705 | likely_pathogenic | 0.7059 | pathogenic | -1.006 | Destabilizing | 0.97 | D | 0.527 | neutral | None | None | None | None | I |
| C/V | 0.4579 | ambiguous | 0.4122 | ambiguous | -1.099 | Destabilizing | 0.304 | N | 0.424 | neutral | None | None | None | None | I |
| C/W | 0.7647 | likely_pathogenic | 0.7278 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.48229379 | None | None | I |
| C/Y | 0.5894 | likely_pathogenic | 0.5379 | ambiguous | -0.984 | Destabilizing | 0.998 | D | 0.752 | deleterious | N | 0.485545793 | None | None | I |
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.