Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33464 | 100615;100616;100617 | chr2:178536357;178536356;178536355 | chr2:179401084;179401083;179401082 |
| N2AB | 31823 | 95692;95693;95694 | chr2:178536357;178536356;178536355 | chr2:179401084;179401083;179401082 |
| N2A | 30896 | 92911;92912;92913 | chr2:178536357;178536356;178536355 | chr2:179401084;179401083;179401082 |
| N2B | 24399 | 73420;73421;73422 | chr2:178536357;178536356;178536355 | chr2:179401084;179401083;179401082 |
| Novex-1 | 24524 | 73795;73796;73797 | chr2:178536357;178536356;178536355 | chr2:179401084;179401083;179401082 |
| Novex-2 | 24591 | 73996;73997;73998 | chr2:178536357;178536356;178536355 | chr2:179401084;179401083;179401082 |
| 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 | rs1480074410  |
-1.091 | 0.999 | N | 0.674 | 0.547 | 0.450733807028 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| E/A | rs1480074410 |
-1.091 | 0.999 | N | 0.674 | 0.547 | 0.450733807028 | gnomAD-4.0.0 | 3.18292E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71654E-06 | 0 | 0 |
| E/K | None | -0.798 | 1.0 | N | 0.631 | 0.434 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02575E-04 | None | 0 | None | 0 | 0 | 0 |
| E/K | None | -0.798 | 1.0 | N | 0.631 | 0.434 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | -0.798 | 1.0 | N | 0.631 | 0.434 | None | gnomAD-4.0.0 | 7.43661E-06 | None | None | None | None | N | None | 9.34305E-05 | 1.66706E-05 | None | 0 | 2.22816E-05 | None | 0 | 0 | 8.47614E-07 | 1.09801E-05 | 1.60123E-05 |
| E/Q | rs374920916 |
None | 1.0 | N | 0.696 | 0.321 | 0.350746614512 | gnomAD-4.0.0 | 6.84263E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99486E-07 | 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 | 0.4626 | ambiguous | 0.4476 | ambiguous | -1.757 | Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.521233892 | None | None | N |
| E/C | 0.9099 | likely_pathogenic | 0.9127 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/D | 0.7365 | likely_pathogenic | 0.731 | pathogenic | -1.705 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.474170396 | None | None | N |
| E/F | 0.9078 | likely_pathogenic | 0.9331 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| E/G | 0.698 | likely_pathogenic | 0.7327 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.49252814 | None | None | N |
| E/H | 0.8829 | likely_pathogenic | 0.9028 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| E/I | 0.5897 | likely_pathogenic | 0.5772 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| E/K | 0.6986 | likely_pathogenic | 0.7591 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.475384173 | None | None | N |
| E/L | 0.8048 | likely_pathogenic | 0.8142 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/M | 0.7318 | likely_pathogenic | 0.723 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/N | 0.8496 | likely_pathogenic | 0.8546 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/P | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| E/Q | 0.3269 | likely_benign | 0.3271 | benign | -1.514 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.469362277 | None | None | N |
| E/R | 0.8007 | likely_pathogenic | 0.8487 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| E/S | 0.5663 | likely_pathogenic | 0.5533 | ambiguous | -2.508 | Highly Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/T | 0.5782 | likely_pathogenic | 0.5718 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| E/V | 0.4553 | ambiguous | 0.4387 | ambiguous | -0.966 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.461281512 | None | None | N |
| E/W | 0.9856 | likely_pathogenic | 0.9906 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/Y | 0.9039 | likely_pathogenic | 0.9334 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.779 | 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.