Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17448 | 52567;52568;52569 | chr2:178608669;178608668;178608667 | chr2:179473396;179473395;179473394 |
| N2AB | 15807 | 47644;47645;47646 | chr2:178608669;178608668;178608667 | chr2:179473396;179473395;179473394 |
| N2A | 14880 | 44863;44864;44865 | chr2:178608669;178608668;178608667 | chr2:179473396;179473395;179473394 |
| N2B | 8383 | 25372;25373;25374 | chr2:178608669;178608668;178608667 | chr2:179473396;179473395;179473394 |
| Novex-1 | 8508 | 25747;25748;25749 | chr2:178608669;178608668;178608667 | chr2:179473396;179473395;179473394 |
| Novex-2 | 8575 | 25948;25949;25950 | chr2:178608669;178608668;178608667 | chr2:179473396;179473395;179473394 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | N | 0.676 | 0.497 | 0.348101942276 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| E/K | rs749894582  |
-1.076 | 0.999 | N | 0.539 | 0.401 | 0.298403945805 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| E/K | rs749894582 |
-1.076 | 0.999 | N | 0.539 | 0.401 | 0.298403945805 | gnomAD-4.0.0 | 4.10979E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40047E-06 | 0 | 0 |
| E/Q | rs749894582 |
-1.137 | 1.0 | N | 0.623 | 0.219 | 0.255777322467 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs749894582 |
-1.137 | 1.0 | N | 0.623 | 0.219 | 0.255777322467 | gnomAD-4.0.0 | 6.84965E-07 | None | None | None | None | I | None | 0 | 2.24195E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7127 | likely_pathogenic | 0.6601 | pathogenic | -0.953 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | N | 0.471151294 | None | None | I |
| E/C | 0.9618 | likely_pathogenic | 0.9543 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| E/D | 0.8583 | likely_pathogenic | 0.836 | pathogenic | -1.466 | Destabilizing | 0.999 | D | 0.463 | neutral | N | 0.497866831 | None | None | I |
| E/F | 0.9853 | likely_pathogenic | 0.9806 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | I |
| E/G | 0.8157 | likely_pathogenic | 0.7861 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.49424598 | None | None | I |
| E/H | 0.9489 | likely_pathogenic | 0.94 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| E/I | 0.8669 | likely_pathogenic | 0.8086 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| E/K | 0.7733 | likely_pathogenic | 0.7225 | pathogenic | -1.04 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.469531906 | None | None | I |
| E/L | 0.9443 | likely_pathogenic | 0.9241 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| E/M | 0.8885 | likely_pathogenic | 0.848 | pathogenic | 0.466 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| E/N | 0.9227 | likely_pathogenic | 0.9064 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| E/P | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| E/Q | 0.3799 | ambiguous | 0.349 | ambiguous | -1.099 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.501855911 | None | None | I |
| E/R | 0.8455 | likely_pathogenic | 0.8221 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| E/S | 0.7854 | likely_pathogenic | 0.7615 | pathogenic | -1.713 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | I |
| E/T | 0.808 | likely_pathogenic | 0.7557 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| E/V | 0.6709 | likely_pathogenic | 0.5777 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.470391279 | None | None | I |
| E/W | 0.9942 | likely_pathogenic | 0.9934 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| E/Y | 0.9805 | likely_pathogenic | 0.9751 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | 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.