Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30487 | 91684;91685;91686 | chr2:178551072;178551071;178551070 | chr2:179415799;179415798;179415797 |
| N2AB | 28846 | 86761;86762;86763 | chr2:178551072;178551071;178551070 | chr2:179415799;179415798;179415797 |
| N2A | 27919 | 83980;83981;83982 | chr2:178551072;178551071;178551070 | chr2:179415799;179415798;179415797 |
| N2B | 21422 | 64489;64490;64491 | chr2:178551072;178551071;178551070 | chr2:179415799;179415798;179415797 |
| Novex-1 | 21547 | 64864;64865;64866 | chr2:178551072;178551071;178551070 | chr2:179415799;179415798;179415797 |
| Novex-2 | 21614 | 65065;65066;65067 | chr2:178551072;178551071;178551070 | chr2:179415799;179415798;179415797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1487384647  |
-1.266 | 0.071 | D | 0.136 | 0.123 | 0.184867976434 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| S/G | rs1487384647 |
-1.266 | 0.071 | D | 0.136 | 0.123 | 0.184867976434 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88388E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0779 | likely_benign | 0.0824 | benign | -0.722 | Destabilizing | 0.304 | N | 0.154 | neutral | None | None | None | None | N |
| S/C | 0.1141 | likely_benign | 0.1239 | benign | -0.404 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.51830823 | None | None | N |
| S/D | 0.5479 | ambiguous | 0.6175 | pathogenic | 0.322 | Stabilizing | 0.985 | D | 0.484 | neutral | None | None | None | None | N |
| S/E | 0.5728 | likely_pathogenic | 0.6369 | pathogenic | 0.27 | Stabilizing | 0.985 | D | 0.489 | neutral | None | None | None | None | N |
| S/F | 0.189 | likely_benign | 0.2323 | benign | -1.133 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| S/G | 0.1161 | likely_benign | 0.1195 | benign | -0.896 | Destabilizing | 0.071 | N | 0.136 | neutral | D | 0.522271255 | None | None | N |
| S/H | 0.347 | ambiguous | 0.3916 | ambiguous | -1.319 | Destabilizing | 1.0 | D | 0.571 | neutral | None | None | None | None | N |
| S/I | 0.1164 | likely_benign | 0.1267 | benign | -0.378 | Destabilizing | 0.994 | D | 0.633 | neutral | N | 0.4369805 | None | None | N |
| S/K | 0.6679 | likely_pathogenic | 0.7301 | pathogenic | -0.477 | Destabilizing | 0.97 | D | 0.485 | neutral | None | None | None | None | N |
| S/L | 0.0674 | likely_benign | 0.0741 | benign | -0.378 | Destabilizing | 0.97 | D | 0.517 | neutral | None | None | None | None | N |
| S/M | 0.1314 | likely_benign | 0.1383 | benign | -0.075 | Destabilizing | 1.0 | D | 0.571 | neutral | None | None | None | None | N |
| S/N | 0.1275 | likely_benign | 0.1327 | benign | -0.273 | Destabilizing | 0.98 | D | 0.499 | neutral | N | 0.471746435 | None | None | N |
| S/P | 0.3446 | ambiguous | 0.3908 | ambiguous | -0.462 | Destabilizing | 0.996 | D | 0.565 | neutral | None | None | None | None | N |
| S/Q | 0.4221 | ambiguous | 0.4631 | ambiguous | -0.485 | Destabilizing | 0.999 | D | 0.538 | neutral | None | None | None | None | N |
| S/R | 0.6528 | likely_pathogenic | 0.7251 | pathogenic | -0.312 | Destabilizing | 0.994 | D | 0.562 | neutral | N | 0.466972546 | None | None | N |
| S/T | 0.0695 | likely_benign | 0.0699 | benign | -0.423 | Destabilizing | 0.961 | D | 0.452 | neutral | N | 0.423125768 | None | None | N |
| S/V | 0.1225 | likely_benign | 0.1356 | benign | -0.462 | Destabilizing | 0.991 | D | 0.537 | neutral | None | None | None | None | N |
| S/W | 0.4244 | ambiguous | 0.5036 | ambiguous | -1.056 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1945 | likely_benign | 0.2374 | benign | -0.806 | Destabilizing | 0.999 | D | 0.628 | neutral | 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.