Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8035 | 24328;24329;24330 | chr2:178719287;178719286;178719285 | chr2:179584014;179584013;179584012 |
| N2AB | 7718 | 23377;23378;23379 | chr2:178719287;178719286;178719285 | chr2:179584014;179584013;179584012 |
| N2A | 6791 | 20596;20597;20598 | chr2:178719287;178719286;178719285 | chr2:179584014;179584013;179584012 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs770221553  |
-0.479 | 0.997 | N | 0.627 | 0.482 | 0.775432274672 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| F/C | rs770221553 |
-0.479 | 0.997 | N | 0.627 | 0.482 | 0.775432274672 | gnomAD-4.0.0 | 2.73681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59793E-06 | 0 | 0 |
| F/S | rs770221553 |
-1.083 | 0.136 | N | 0.468 | 0.259 | 0.617803836188 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| F/S | rs770221553 |
-1.083 | 0.136 | N | 0.468 | 0.259 | 0.617803836188 | gnomAD-4.0.0 | 6.84201E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87259E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.6362 | likely_pathogenic | 0.7012 | pathogenic | -1.798 | Destabilizing | 0.525 | D | 0.557 | neutral | None | None | None | None | N |
| F/C | 0.393 | ambiguous | 0.4492 | ambiguous | -0.936 | Destabilizing | 0.997 | D | 0.627 | neutral | N | 0.504392923 | None | None | N |
| F/D | 0.8468 | likely_pathogenic | 0.9023 | pathogenic | 0.177 | Stabilizing | 0.949 | D | 0.609 | neutral | None | None | None | None | N |
| F/E | 0.8885 | likely_pathogenic | 0.9254 | pathogenic | 0.223 | Stabilizing | 0.949 | D | 0.611 | neutral | None | None | None | None | N |
| F/G | 0.8092 | likely_pathogenic | 0.8635 | pathogenic | -2.089 | Highly Destabilizing | 0.842 | D | 0.569 | neutral | None | None | None | None | N |
| F/H | 0.6412 | likely_pathogenic | 0.7014 | pathogenic | -0.489 | Destabilizing | 0.949 | D | 0.575 | neutral | None | None | None | None | N |
| F/I | 0.2126 | likely_benign | 0.2282 | benign | -0.97 | Destabilizing | 0.801 | D | 0.528 | neutral | N | 0.520898323 | None | None | N |
| F/K | 0.8775 | likely_pathogenic | 0.9158 | pathogenic | -0.763 | Destabilizing | 0.949 | D | 0.611 | neutral | None | None | None | None | N |
| F/L | 0.7896 | likely_pathogenic | 0.8088 | pathogenic | -0.97 | Destabilizing | 0.454 | N | 0.453 | neutral | N | 0.483014726 | None | None | N |
| F/M | 0.5704 | likely_pathogenic | 0.5992 | pathogenic | -0.738 | Destabilizing | 0.991 | D | 0.557 | neutral | None | None | None | None | N |
| F/N | 0.6961 | likely_pathogenic | 0.7676 | pathogenic | -0.689 | Destabilizing | 0.949 | D | 0.617 | neutral | None | None | None | None | N |
| F/P | 0.9697 | likely_pathogenic | 0.9818 | pathogenic | -1.233 | Destabilizing | 0.974 | D | 0.634 | neutral | None | None | None | None | N |
| F/Q | 0.8124 | likely_pathogenic | 0.8614 | pathogenic | -0.758 | Destabilizing | 0.974 | D | 0.638 | neutral | None | None | None | None | N |
| F/R | 0.7531 | likely_pathogenic | 0.8163 | pathogenic | -0.174 | Destabilizing | 0.974 | D | 0.641 | neutral | None | None | None | None | N |
| F/S | 0.4586 | ambiguous | 0.5347 | ambiguous | -1.566 | Destabilizing | 0.136 | N | 0.468 | neutral | N | 0.50862246 | None | None | N |
| F/T | 0.5846 | likely_pathogenic | 0.6481 | pathogenic | -1.426 | Destabilizing | 0.728 | D | 0.605 | neutral | None | None | None | None | N |
| F/V | 0.2279 | likely_benign | 0.2438 | benign | -1.233 | Destabilizing | 0.801 | D | 0.502 | neutral | N | 0.492228855 | None | None | N |
| F/W | 0.6176 | likely_pathogenic | 0.6483 | pathogenic | -0.384 | Destabilizing | 0.974 | D | 0.561 | neutral | None | None | None | None | N |
| F/Y | 0.1941 | likely_benign | 0.2107 | benign | -0.497 | Destabilizing | 0.012 | N | 0.235 | neutral | N | 0.470373503 | 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.