Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24850 | 74773;74774;74775 | chr2:178571584;178571583;178571582 | chr2:179436311;179436310;179436309 |
| N2AB | 23209 | 69850;69851;69852 | chr2:178571584;178571583;178571582 | chr2:179436311;179436310;179436309 |
| N2A | 22282 | 67069;67070;67071 | chr2:178571584;178571583;178571582 | chr2:179436311;179436310;179436309 |
| N2B | 15785 | 47578;47579;47580 | chr2:178571584;178571583;178571582 | chr2:179436311;179436310;179436309 |
| Novex-1 | 15910 | 47953;47954;47955 | chr2:178571584;178571583;178571582 | chr2:179436311;179436310;179436309 |
| Novex-2 | 15977 | 48154;48155;48156 | chr2:178571584;178571583;178571582 | chr2:179436311;179436310;179436309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs573415766  |
-0.872 | 0.834 | N | 0.693 | 0.447 | 0.346085882481 | gnomAD-2.1.1 | 2.87354E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.58542E-03 | None | 0 | 7.89E-06 | 0 |
| D/G | rs573415766 |
-0.872 | 0.834 | N | 0.693 | 0.447 | 0.346085882481 | gnomAD-3.1.2 | 1.70938E-04 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 4.76191E-03 | 0 |
| D/G | rs573415766 |
-0.872 | 0.834 | N | 0.693 | 0.447 | 0.346085882481 | 1000 genomes | 1.39776E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 7.2E-03 | None |
| D/G | rs573415766 |
-0.872 | 0.834 | N | 0.693 | 0.447 | 0.346085882481 | gnomAD-4.0.0 | 1.8906E-04 | None | None | None | None | N | None | 2.66596E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93441E-06 | 3.1298E-03 | 1.76152E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.607 | likely_pathogenic | 0.6379 | pathogenic | -0.635 | Destabilizing | 0.898 | D | 0.684 | prob.neutral | N | 0.474887504 | None | None | N |
| D/C | 0.7927 | likely_pathogenic | 0.7998 | pathogenic | -0.206 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | N |
| D/E | 0.2527 | likely_benign | 0.2869 | benign | -0.808 | Destabilizing | 0.016 | N | 0.259 | neutral | N | 0.430705102 | None | None | N |
| D/F | 0.9521 | likely_pathogenic | 0.9575 | pathogenic | -0.486 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| D/G | 0.777 | likely_pathogenic | 0.7876 | pathogenic | -0.954 | Destabilizing | 0.834 | D | 0.693 | prob.neutral | N | 0.478041055 | None | None | N |
| D/H | 0.807 | likely_pathogenic | 0.8079 | pathogenic | -0.813 | Destabilizing | 0.993 | D | 0.766 | deleterious | N | 0.499766161 | None | None | N |
| D/I | 0.8182 | likely_pathogenic | 0.8492 | pathogenic | 0.197 | Stabilizing | 0.979 | D | 0.821 | deleterious | None | None | None | None | N |
| D/K | 0.8895 | likely_pathogenic | 0.9048 | pathogenic | -0.38 | Destabilizing | 0.921 | D | 0.698 | prob.neutral | None | None | None | None | N |
| D/L | 0.7774 | likely_pathogenic | 0.8006 | pathogenic | 0.197 | Stabilizing | 0.959 | D | 0.818 | deleterious | None | None | None | None | N |
| D/M | 0.9057 | likely_pathogenic | 0.9189 | pathogenic | 0.719 | Stabilizing | 0.998 | D | 0.772 | deleterious | None | None | None | None | N |
| D/N | 0.3669 | ambiguous | 0.3472 | ambiguous | -0.772 | Destabilizing | 0.946 | D | 0.647 | neutral | N | 0.516286646 | None | None | N |
| D/P | 0.9412 | likely_pathogenic | 0.9583 | pathogenic | -0.056 | Destabilizing | 0.979 | D | 0.815 | deleterious | None | None | None | None | N |
| D/Q | 0.7858 | likely_pathogenic | 0.8043 | pathogenic | -0.667 | Destabilizing | 0.921 | D | 0.738 | prob.delet. | None | None | None | None | N |
| D/R | 0.9194 | likely_pathogenic | 0.9265 | pathogenic | -0.282 | Destabilizing | 0.959 | D | 0.795 | deleterious | None | None | None | None | N |
| D/S | 0.5833 | likely_pathogenic | 0.5857 | pathogenic | -0.994 | Destabilizing | 0.769 | D | 0.596 | neutral | None | None | None | None | N |
| D/T | 0.8123 | likely_pathogenic | 0.8317 | pathogenic | -0.733 | Destabilizing | 0.959 | D | 0.785 | deleterious | None | None | None | None | N |
| D/V | 0.6477 | likely_pathogenic | 0.6889 | pathogenic | -0.056 | Destabilizing | 0.946 | D | 0.821 | deleterious | N | 0.488245272 | None | None | N |
| D/W | 0.9887 | likely_pathogenic | 0.9895 | pathogenic | -0.351 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| D/Y | 0.7128 | likely_pathogenic | 0.7255 | pathogenic | -0.26 | Destabilizing | 0.998 | D | 0.791 | deleterious | D | 0.52349273 | 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.