Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18405 | 55438;55439;55440 | chr2:178602058;178602057;178602056 | chr2:179466785;179466784;179466783 |
| N2AB | 16764 | 50515;50516;50517 | chr2:178602058;178602057;178602056 | chr2:179466785;179466784;179466783 |
| N2A | 15837 | 47734;47735;47736 | chr2:178602058;178602057;178602056 | chr2:179466785;179466784;179466783 |
| N2B | 9340 | 28243;28244;28245 | chr2:178602058;178602057;178602056 | chr2:179466785;179466784;179466783 |
| Novex-1 | 9465 | 28618;28619;28620 | chr2:178602058;178602057;178602056 | chr2:179466785;179466784;179466783 |
| Novex-2 | 9532 | 28819;28820;28821 | chr2:178602058;178602057;178602056 | chr2:179466785;179466784;179466783 |
| 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/C | rs199656264  |
-0.097 | 1.0 | N | 0.763 | 0.436 | None | gnomAD-2.1.1 | 3.58E-05 | None | None | None | None | I | None | 8.28E-05 | 5.67E-05 | None | 0 | 5.16E-05 | None | 3.27E-05 | None | 0 | 2.35E-05 | 1.40647E-04 |
| R/C | rs199656264 |
-0.097 | 1.0 | N | 0.763 | 0.436 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| R/C | rs199656264 |
-0.097 | 1.0 | N | 0.763 | 0.436 | None | gnomAD-4.0.0 | 3.16274E-05 | None | None | None | None | I | None | 1.33704E-05 | 3.33912E-05 | None | 0 | 0 | None | 0 | 0 | 3.81613E-05 | 2.19761E-05 | 1.60267E-05 |
| R/H | rs771921519 |
-0.785 | 1.0 | N | 0.762 | 0.4 | 0.473143432122 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 1.74135E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/H | rs771921519 |
-0.785 | 1.0 | N | 0.762 | 0.4 | 0.473143432122 | gnomAD-4.0.0 | 1.02688E-05 | None | None | None | None | I | None | 0 | 1.34282E-04 | None | 0 | 0 | None | 0 | 0 | 8.09865E-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 | 0.9454 | likely_pathogenic | 0.968 | pathogenic | -0.013 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | I |
| R/C | 0.4282 | ambiguous | 0.529 | ambiguous | -0.298 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.506456838 | None | None | I |
| R/D | 0.9792 | likely_pathogenic | 0.9892 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| R/E | 0.8762 | likely_pathogenic | 0.9152 | pathogenic | -0.272 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | I |
| R/F | 0.8164 | likely_pathogenic | 0.871 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| R/G | 0.9237 | likely_pathogenic | 0.9545 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.506203348 | None | None | I |
| R/H | 0.2213 | likely_benign | 0.2659 | benign | -0.599 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.512894916 | None | None | I |
| R/I | 0.5689 | likely_pathogenic | 0.7087 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| R/K | 0.2178 | likely_benign | 0.2365 | benign | -0.22 | Destabilizing | 0.998 | D | 0.505 | neutral | None | None | None | None | I |
| R/L | 0.6985 | likely_pathogenic | 0.7802 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.636 | neutral | N | 0.518743453 | None | None | I |
| R/M | 0.7336 | likely_pathogenic | 0.8282 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| R/N | 0.9175 | likely_pathogenic | 0.9528 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| R/P | 0.9919 | likely_pathogenic | 0.9956 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.506456838 | None | None | I |
| R/Q | 0.2889 | likely_benign | 0.35 | ambiguous | -0.169 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| R/S | 0.9389 | likely_pathogenic | 0.9649 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.521031609 | None | None | I |
| R/T | 0.8312 | likely_pathogenic | 0.9 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| R/V | 0.7453 | likely_pathogenic | 0.8304 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| R/W | 0.3835 | ambiguous | 0.4807 | ambiguous | -0.537 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/Y | 0.6286 | likely_pathogenic | 0.7194 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.747 | deleterious | 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.