Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20893 | 62902;62903;62904 | chr2:178589048;178589047;178589046 | chr2:179453775;179453774;179453773 |
| N2AB | 19252 | 57979;57980;57981 | chr2:178589048;178589047;178589046 | chr2:179453775;179453774;179453773 |
| N2A | 18325 | 55198;55199;55200 | chr2:178589048;178589047;178589046 | chr2:179453775;179453774;179453773 |
| N2B | 11828 | 35707;35708;35709 | chr2:178589048;178589047;178589046 | chr2:179453775;179453774;179453773 |
| Novex-1 | 11953 | 36082;36083;36084 | chr2:178589048;178589047;178589046 | chr2:179453775;179453774;179453773 |
| Novex-2 | 12020 | 36283;36284;36285 | chr2:178589048;178589047;178589046 | chr2:179453775;179453774;179453773 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs952158828  |
None | 1.0 | N | 0.602 | 0.429 | 0.481616744073 | gnomAD-4.0.0 | 3.43141E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49809E-06 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.741 | 0.537 | 0.586144602217 | gnomAD-4.0.0 | 6.86214E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-07 | 0 | 0 |
| G/S | rs1576064478 |
None | 1.0 | N | 0.67 | 0.454 | 0.467839254973 | gnomAD-4.0.0 | 6.86214E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-07 | 0 | 0 |
| G/V | rs952158828 |
0.093 | 1.0 | D | 0.754 | 0.504 | 0.704881100643 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/V | rs952158828 |
0.093 | 1.0 | D | 0.754 | 0.504 | 0.704881100643 | gnomAD-4.0.0 | 2.05885E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79924E-06 | 0 | 1.65777E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8723 | likely_pathogenic | 0.843 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.503848447 | None | None | I |
| G/C | 0.8971 | likely_pathogenic | 0.8828 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.519461168 | None | None | I |
| G/D | 0.9768 | likely_pathogenic | 0.9666 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.509230498 | None | None | I |
| G/E | 0.9857 | likely_pathogenic | 0.9789 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/F | 0.9874 | likely_pathogenic | 0.9837 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/H | 0.9862 | likely_pathogenic | 0.9836 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/I | 0.988 | likely_pathogenic | 0.9815 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/K | 0.9902 | likely_pathogenic | 0.9891 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/L | 0.9815 | likely_pathogenic | 0.9728 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/M | 0.9884 | likely_pathogenic | 0.9838 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| G/N | 0.9453 | likely_pathogenic | 0.9327 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/Q | 0.9785 | likely_pathogenic | 0.9745 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| G/R | 0.9734 | likely_pathogenic | 0.97 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.523309055 | None | None | I |
| G/S | 0.7719 | likely_pathogenic | 0.7394 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.67 | neutral | N | 0.497808059 | None | None | I |
| G/T | 0.9712 | likely_pathogenic | 0.9566 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/V | 0.981 | likely_pathogenic | 0.9714 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.529803515 | None | None | I |
| G/W | 0.9848 | likely_pathogenic | 0.9827 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/Y | 0.9819 | likely_pathogenic | 0.9773 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | 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.