Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5673 | 17242;17243;17244 | chr2:178731858;178731857;178731856 | chr2:179596585;179596584;179596583 |
| N2AB | 5356 | 16291;16292;16293 | chr2:178731858;178731857;178731856 | chr2:179596585;179596584;179596583 |
| N2A | 4429 | 13510;13511;13512 | chr2:178731858;178731857;178731856 | chr2:179596585;179596584;179596583 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs774163706  |
0.16 | 0.989 | N | 0.548 | 0.361 | 0.188950314367 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| D/G | rs774163706 |
0.16 | 0.989 | N | 0.548 | 0.361 | 0.188950314367 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs774163706 |
0.16 | 0.989 | N | 0.548 | 0.361 | 0.188950314367 | gnomAD-4.0.0 | 4.95754E-06 | None | None | None | None | N | None | 1.3349E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54289E-06 | 3.29366E-05 | 1.60118E-05 |
| D/V | rs774163706 |
0.367 | 0.998 | N | 0.663 | 0.447 | 0.537448724652 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/V | rs774163706 |
0.367 | 0.998 | N | 0.663 | 0.447 | 0.537448724652 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs774163706 |
0.367 | 0.998 | N | 0.663 | 0.447 | 0.537448724652 | gnomAD-4.0.0 | 1.67317E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.2886E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4861 | ambiguous | 0.4571 | ambiguous | -0.522 | Destabilizing | 0.989 | D | 0.519 | neutral | N | 0.484741963 | None | None | N |
| D/C | 0.8638 | likely_pathogenic | 0.8406 | pathogenic | -0.073 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| D/E | 0.3541 | ambiguous | 0.3324 | benign | -0.409 | Destabilizing | 0.543 | D | 0.309 | neutral | N | 0.492172061 | None | None | N |
| D/F | 0.9103 | likely_pathogenic | 0.8996 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| D/G | 0.1685 | likely_benign | 0.1585 | benign | -0.772 | Destabilizing | 0.989 | D | 0.548 | neutral | N | 0.509101596 | None | None | N |
| D/H | 0.6848 | likely_pathogenic | 0.6648 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.521 | neutral | N | 0.503353197 | None | None | N |
| D/I | 0.8982 | likely_pathogenic | 0.8789 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| D/K | 0.7887 | likely_pathogenic | 0.7556 | pathogenic | 0.036 | Stabilizing | 0.992 | D | 0.52 | neutral | None | None | None | None | N |
| D/L | 0.8405 | likely_pathogenic | 0.8279 | pathogenic | 0.106 | Stabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| D/M | 0.9278 | likely_pathogenic | 0.917 | pathogenic | 0.399 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| D/N | 0.1414 | likely_benign | 0.1418 | benign | -0.323 | Destabilizing | 0.543 | D | 0.273 | neutral | N | 0.460267499 | None | None | N |
| D/P | 0.9856 | likely_pathogenic | 0.9804 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.531 | neutral | None | None | None | None | N |
| D/Q | 0.695 | likely_pathogenic | 0.6689 | pathogenic | -0.252 | Destabilizing | 0.998 | D | 0.472 | neutral | None | None | None | None | N |
| D/R | 0.7956 | likely_pathogenic | 0.7728 | pathogenic | 0.209 | Stabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| D/S | 0.3052 | likely_benign | 0.2973 | benign | -0.464 | Destabilizing | 0.992 | D | 0.481 | neutral | None | None | None | None | N |
| D/T | 0.7653 | likely_pathogenic | 0.7254 | pathogenic | -0.263 | Destabilizing | 0.998 | D | 0.501 | neutral | None | None | None | None | N |
| D/V | 0.7275 | likely_pathogenic | 0.6992 | pathogenic | -0.081 | Destabilizing | 0.998 | D | 0.663 | neutral | N | 0.478754482 | None | None | N |
| D/W | 0.9711 | likely_pathogenic | 0.9673 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5342 | ambiguous | 0.5292 | ambiguous | -0.078 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.496858737 | 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.