Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26427 | 79504;79505;79506 | chr2:178566853;178566852;178566851 | chr2:179431580;179431579;179431578 |
| N2AB | 24786 | 74581;74582;74583 | chr2:178566853;178566852;178566851 | chr2:179431580;179431579;179431578 |
| N2A | 23859 | 71800;71801;71802 | chr2:178566853;178566852;178566851 | chr2:179431580;179431579;179431578 |
| N2B | 17362 | 52309;52310;52311 | chr2:178566853;178566852;178566851 | chr2:179431580;179431579;179431578 |
| Novex-1 | 17487 | 52684;52685;52686 | chr2:178566853;178566852;178566851 | chr2:179431580;179431579;179431578 |
| Novex-2 | 17554 | 52885;52886;52887 | chr2:178566853;178566852;178566851 | chr2:179431580;179431579;179431578 |
| 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/E | rs766994654  |
-0.658 | 0.067 | N | 0.272 | 0.07 | 0.239901079897 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.06E-05 | 0 |
| D/E | rs766994654 |
-0.658 | 0.067 | N | 0.272 | 0.07 | 0.239901079897 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/E | rs766994654 |
-0.658 | 0.067 | N | 0.272 | 0.07 | 0.239901079897 | gnomAD-4.0.0 | 6.84363E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52385E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs1157004476 |
None | 0.998 | N | 0.755 | 0.489 | 0.40417439687 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs1157004476 |
None | 0.998 | N | 0.755 | 0.489 | 0.40417439687 | gnomAD-4.0.0 | 6.57462E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1157004476 |
None | 0.988 | N | 0.645 | 0.375 | 0.342400092842 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| D/N | rs1157004476 |
None | 0.988 | N | 0.645 | 0.375 | 0.342400092842 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02554E-05 |
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 | 0.9413 | likely_pathogenic | 0.9232 | pathogenic | -0.355 | Destabilizing | 0.988 | D | 0.677 | prob.neutral | N | 0.479825028 | None | None | N |
| D/C | 0.9739 | likely_pathogenic | 0.964 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/E | 0.7597 | likely_pathogenic | 0.7094 | pathogenic | -0.76 | Destabilizing | 0.067 | N | 0.272 | neutral | N | 0.423701772 | None | None | N |
| D/F | 0.9868 | likely_pathogenic | 0.9793 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/G | 0.9474 | likely_pathogenic | 0.9302 | pathogenic | -0.794 | Destabilizing | 0.958 | D | 0.688 | prob.neutral | N | 0.475407709 | None | None | N |
| D/H | 0.9437 | likely_pathogenic | 0.9307 | pathogenic | -0.276 | Destabilizing | 0.998 | D | 0.755 | deleterious | N | 0.487586935 | None | None | N |
| D/I | 0.9801 | likely_pathogenic | 0.9681 | pathogenic | 0.832 | Stabilizing | 0.995 | D | 0.798 | deleterious | None | None | None | None | N |
| D/K | 0.9858 | likely_pathogenic | 0.9831 | pathogenic | -0.7 | Destabilizing | 0.982 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/L | 0.9652 | likely_pathogenic | 0.9551 | pathogenic | 0.832 | Stabilizing | 0.991 | D | 0.793 | deleterious | None | None | None | None | N |
| D/M | 0.9902 | likely_pathogenic | 0.9854 | pathogenic | 1.383 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/N | 0.7934 | likely_pathogenic | 0.7265 | pathogenic | -1.213 | Destabilizing | 0.988 | D | 0.645 | neutral | N | 0.467481217 | None | None | N |
| D/P | 0.9941 | likely_pathogenic | 0.9941 | pathogenic | 0.463 | Stabilizing | 0.995 | D | 0.791 | deleterious | None | None | None | None | N |
| D/Q | 0.9642 | likely_pathogenic | 0.9548 | pathogenic | -0.935 | Destabilizing | 0.982 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/R | 0.9823 | likely_pathogenic | 0.9792 | pathogenic | -0.588 | Destabilizing | 0.991 | D | 0.775 | deleterious | None | None | None | None | N |
| D/S | 0.8776 | likely_pathogenic | 0.8372 | pathogenic | -1.58 | Destabilizing | 0.968 | D | 0.602 | neutral | None | None | None | None | N |
| D/T | 0.9743 | likely_pathogenic | 0.9617 | pathogenic | -1.203 | Destabilizing | 0.991 | D | 0.765 | deleterious | None | None | None | None | N |
| D/V | 0.9521 | likely_pathogenic | 0.9286 | pathogenic | 0.463 | Stabilizing | 0.994 | D | 0.795 | deleterious | N | 0.467507671 | None | None | N |
| D/W | 0.9956 | likely_pathogenic | 0.9938 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| D/Y | 0.9173 | likely_pathogenic | 0.8912 | pathogenic | 0.401 | Stabilizing | 0.999 | D | 0.776 | deleterious | D | 0.526455245 | 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.