Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32628 | 98107;98108;98109 | chr2:178540284;178540283;178540282 | chr2:179405011;179405010;179405009 |
| N2AB | 30987 | 93184;93185;93186 | chr2:178540284;178540283;178540282 | chr2:179405011;179405010;179405009 |
| N2A | 30060 | 90403;90404;90405 | chr2:178540284;178540283;178540282 | chr2:179405011;179405010;179405009 |
| N2B | 23563 | 70912;70913;70914 | chr2:178540284;178540283;178540282 | chr2:179405011;179405010;179405009 |
| Novex-1 | 23688 | 71287;71288;71289 | chr2:178540284;178540283;178540282 | chr2:179405011;179405010;179405009 |
| Novex-2 | 23755 | 71488;71489;71490 | chr2:178540284;178540283;178540282 | chr2:179405011;179405010;179405009 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1693781320  |
None | 1.0 | N | 0.854 | 0.481 | 0.628357094819 | gnomAD-4.0.0 | 2.05262E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.03829E-05 | None | 0 | 0 | 8.99481E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6657 | likely_pathogenic | 0.8041 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.52912459 | None | None | I |
| G/C | 0.8924 | likely_pathogenic | 0.9555 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/D | 0.8905 | likely_pathogenic | 0.9615 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/E | 0.926 | likely_pathogenic | 0.9745 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.528617611 | None | None | I |
| G/F | 0.9821 | likely_pathogenic | 0.9916 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9757 | likely_pathogenic | 0.9917 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9642 | likely_pathogenic | 0.9885 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.9706 | likely_pathogenic | 0.9902 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/L | 0.9692 | likely_pathogenic | 0.9872 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/M | 0.9802 | likely_pathogenic | 0.993 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/N | 0.9326 | likely_pathogenic | 0.9754 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9916 | likely_pathogenic | 0.9963 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/Q | 0.9666 | likely_pathogenic | 0.9876 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/R | 0.9426 | likely_pathogenic | 0.9786 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.500967476 | None | None | I |
| G/S | 0.6683 | likely_pathogenic | 0.8421 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/T | 0.8838 | likely_pathogenic | 0.9599 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/V | 0.9274 | likely_pathogenic | 0.9745 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.510223867 | None | None | I |
| G/W | 0.9526 | likely_pathogenic | 0.9779 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9596 | likely_pathogenic | 0.9821 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.814 | 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.