Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20817 | 62674;62675;62676 | chr2:178589276;178589275;178589274 | chr2:179454003;179454002;179454001 |
| N2AB | 19176 | 57751;57752;57753 | chr2:178589276;178589275;178589274 | chr2:179454003;179454002;179454001 |
| N2A | 18249 | 54970;54971;54972 | chr2:178589276;178589275;178589274 | chr2:179454003;179454002;179454001 |
| N2B | 11752 | 35479;35480;35481 | chr2:178589276;178589275;178589274 | chr2:179454003;179454002;179454001 |
| Novex-1 | 11877 | 35854;35855;35856 | chr2:178589276;178589275;178589274 | chr2:179454003;179454002;179454001 |
| Novex-2 | 11944 | 36055;36056;36057 | chr2:178589276;178589275;178589274 | chr2:179454003;179454002;179454001 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | N | 0.537 | 0.401 | 0.387850303812 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| R/S | rs372984487  |
None | 1.0 | N | 0.725 | 0.346 | 0.241078983079 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs372984487 |
None | 1.0 | N | 0.725 | 0.346 | 0.241078983079 | gnomAD-4.0.0 | 6.8434E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| R/W | None | None | 1.0 | D | 0.721 | 0.613 | 0.603771522108 | gnomAD-4.0.0 | 4.79027E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29689E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7598 | likely_pathogenic | 0.8152 | pathogenic | -0.676 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | I |
| R/C | 0.5124 | ambiguous | 0.6204 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| R/D | 0.8942 | likely_pathogenic | 0.9264 | pathogenic | 0.115 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| R/E | 0.7413 | likely_pathogenic | 0.8028 | pathogenic | 0.233 | Stabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | I |
| R/F | 0.8782 | likely_pathogenic | 0.908 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| R/G | 0.6522 | likely_pathogenic | 0.7325 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.478247503 | None | None | I |
| R/H | 0.3171 | likely_benign | 0.3851 | ambiguous | -1.271 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| R/I | 0.6812 | likely_pathogenic | 0.7525 | pathogenic | 0.108 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| R/K | 0.3518 | ambiguous | 0.3987 | ambiguous | -0.63 | Destabilizing | 0.997 | D | 0.537 | neutral | N | 0.475459118 | None | None | I |
| R/L | 0.6015 | likely_pathogenic | 0.6565 | pathogenic | 0.108 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| R/M | 0.7265 | likely_pathogenic | 0.7859 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.519268633 | None | None | I |
| R/N | 0.8546 | likely_pathogenic | 0.8853 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| R/P | 0.9386 | likely_pathogenic | 0.9612 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| R/Q | 0.2935 | likely_benign | 0.3513 | ambiguous | -0.297 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| R/S | 0.8625 | likely_pathogenic | 0.8988 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.474550973 | None | None | I |
| R/T | 0.7179 | likely_pathogenic | 0.7829 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.488376041 | None | None | I |
| R/V | 0.746 | likely_pathogenic | 0.7994 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| R/W | 0.4618 | ambiguous | 0.5378 | ambiguous | -0.265 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.530878428 | None | None | I |
| R/Y | 0.7051 | likely_pathogenic | 0.7646 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | 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.