Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9612 | 29059;29060;29061 | chr2:178707733;178707732;178707731 | chr2:179572460;179572459;179572458 |
| N2AB | 9295 | 28108;28109;28110 | chr2:178707733;178707732;178707731 | chr2:179572460;179572459;179572458 |
| N2A | 8368 | 25327;25328;25329 | chr2:178707733;178707732;178707731 | chr2:179572460;179572459;179572458 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | rs779340510  |
0.246 | 0.997 | None | 0.677 | 0.523 | 0.789046042334 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| H/L | rs779340510 |
0.246 | 0.997 | None | 0.677 | 0.523 | 0.789046042334 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| H/Q | None | None | 0.994 | None | 0.564 | 0.377 | 0.0884992946249 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99431E-07 | 0 | 0 |
| H/R | rs779340510 |
-0.617 | 0.135 | None | 0.398 | 0.325 | 0.28492961333 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs779340510 |
-0.617 | 0.135 | None | 0.398 | 0.325 | 0.28492961333 | gnomAD-4.0.0 | 3.18212E-06 | None | None | None | None | N | None | 0 | 4.5731E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.5998 | likely_pathogenic | 0.4915 | ambiguous | -0.877 | Destabilizing | 0.993 | D | 0.597 | neutral | None | None | None | None | N |
| H/C | 0.3619 | ambiguous | 0.2796 | benign | -0.278 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| H/D | 0.6006 | likely_pathogenic | 0.4623 | ambiguous | -0.634 | Destabilizing | 0.997 | D | 0.652 | neutral | None | None | None | None | N |
| H/E | 0.5852 | likely_pathogenic | 0.4796 | ambiguous | -0.572 | Destabilizing | 0.985 | D | 0.479 | neutral | None | None | None | None | N |
| H/F | 0.5244 | ambiguous | 0.4743 | ambiguous | -0.2 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| H/G | 0.6756 | likely_pathogenic | 0.544 | ambiguous | -1.184 | Destabilizing | 0.993 | D | 0.624 | neutral | None | None | None | None | N |
| H/I | 0.6196 | likely_pathogenic | 0.5414 | ambiguous | -0.049 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| H/K | 0.3434 | ambiguous | 0.2953 | benign | -0.839 | Destabilizing | 0.971 | D | 0.544 | neutral | None | None | None | None | N |
| H/L | 0.2828 | likely_benign | 0.2218 | benign | -0.049 | Destabilizing | 0.997 | D | 0.677 | prob.neutral | None | None | None | None | N |
| H/M | 0.7546 | likely_pathogenic | 0.7005 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| H/N | 0.2499 | likely_benign | 0.2011 | benign | -0.723 | Destabilizing | 0.99 | D | 0.513 | neutral | None | None | None | None | N |
| H/P | 0.7161 | likely_pathogenic | 0.533 | ambiguous | -0.305 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| H/Q | 0.3178 | likely_benign | 0.262 | benign | -0.577 | Destabilizing | 0.994 | D | 0.564 | neutral | None | None | None | None | N |
| H/R | 0.1143 | likely_benign | 0.094 | benign | -1.03 | Destabilizing | 0.135 | N | 0.398 | neutral | None | None | None | None | N |
| H/S | 0.4858 | ambiguous | 0.3918 | ambiguous | -0.837 | Destabilizing | 0.993 | D | 0.601 | neutral | None | None | None | None | N |
| H/T | 0.5394 | ambiguous | 0.4466 | ambiguous | -0.686 | Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | N |
| H/V | 0.5393 | ambiguous | 0.4615 | ambiguous | -0.305 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | None | N |
| H/W | 0.6348 | likely_pathogenic | 0.5495 | ambiguous | -0.051 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| H/Y | 0.2253 | likely_benign | 0.1838 | benign | 0.236 | Stabilizing | 0.997 | D | 0.528 | neutral | None | None | 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.