Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21845 | 65758;65759;65760 | chr2:178583649;178583648;178583647 | chr2:179448376;179448375;179448374 |
| N2AB | 20204 | 60835;60836;60837 | chr2:178583649;178583648;178583647 | chr2:179448376;179448375;179448374 |
| N2A | 19277 | 58054;58055;58056 | chr2:178583649;178583648;178583647 | chr2:179448376;179448375;179448374 |
| N2B | 12780 | 38563;38564;38565 | chr2:178583649;178583648;178583647 | chr2:179448376;179448375;179448374 |
| Novex-1 | 12905 | 38938;38939;38940 | chr2:178583649;178583648;178583647 | chr2:179448376;179448375;179448374 |
| Novex-2 | 12972 | 39139;39140;39141 | chr2:178583649;178583648;178583647 | chr2:179448376;179448375;179448374 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs201662134  |
-0.703 | 0.999 | N | 0.763 | 0.433 | None | gnomAD-2.1.1 | 4.78022E-04 | None | None | None | None | N | None | 0 | 2.84738E-04 | None | 9.54236E-03 | 0 | None | 3.3E-05 | None | 0 | 1.57107E-04 | 5.67054E-04 |
| P/L | rs201662134 |
-0.703 | 0.999 | N | 0.763 | 0.433 | None | gnomAD-3.1.2 | 2.63026E-04 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 8.64055E-03 | 0 | None | 0 | 0 | 1.32369E-04 | 0 | 0 |
| P/L | rs201662134 |
-0.703 | 0.999 | N | 0.763 | 0.433 | None | gnomAD-4.0.0 | 2.5878E-04 | None | None | None | None | N | None | 1.33383E-05 | 2.33871E-04 | None | 9.65186E-03 | 0 | None | 0 | 8.364E-04 | 6.10879E-05 | 1.10249E-05 | 6.25441E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1049 | likely_benign | 0.0853 | benign | -1.451 | Destabilizing | 0.767 | D | 0.477 | neutral | N | 0.475595066 | None | None | N |
| P/C | 0.7952 | likely_pathogenic | 0.6807 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/D | 0.9509 | likely_pathogenic | 0.9301 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/E | 0.8011 | likely_pathogenic | 0.7609 | pathogenic | -1.271 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/F | 0.8664 | likely_pathogenic | 0.7916 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/G | 0.6672 | likely_pathogenic | 0.5461 | ambiguous | -1.725 | Destabilizing | 0.997 | D | 0.716 | prob.delet. | None | None | None | None | N |
| P/H | 0.7132 | likely_pathogenic | 0.6188 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.508578026 | None | None | N |
| P/I | 0.7533 | likely_pathogenic | 0.672 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/K | 0.8487 | likely_pathogenic | 0.8111 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/L | 0.5222 | ambiguous | 0.4174 | ambiguous | -0.812 | Destabilizing | 0.999 | D | 0.763 | deleterious | N | 0.50629662 | None | None | N |
| P/M | 0.7963 | likely_pathogenic | 0.7124 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/N | 0.9192 | likely_pathogenic | 0.8816 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/Q | 0.6232 | likely_pathogenic | 0.5499 | ambiguous | -1.126 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/R | 0.7103 | likely_pathogenic | 0.6554 | pathogenic | -0.617 | Destabilizing | 0.999 | D | 0.823 | deleterious | N | 0.499828614 | None | None | N |
| P/S | 0.4092 | ambiguous | 0.3225 | benign | -1.364 | Destabilizing | 0.998 | D | 0.72 | prob.delet. | N | 0.51042445 | None | None | N |
| P/T | 0.5214 | ambiguous | 0.426 | ambiguous | -1.305 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | N | 0.511438408 | None | None | N |
| P/V | 0.5443 | ambiguous | 0.4501 | ambiguous | -0.99 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| P/W | 0.9523 | likely_pathogenic | 0.9191 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/Y | 0.8659 | likely_pathogenic | 0.7973 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.863 | 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.