Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24559 | 73900;73901;73902 | chr2:178572457;178572456;178572455 | chr2:179437184;179437183;179437182 |
| N2AB | 22918 | 68977;68978;68979 | chr2:178572457;178572456;178572455 | chr2:179437184;179437183;179437182 |
| N2A | 21991 | 66196;66197;66198 | chr2:178572457;178572456;178572455 | chr2:179437184;179437183;179437182 |
| N2B | 15494 | 46705;46706;46707 | chr2:178572457;178572456;178572455 | chr2:179437184;179437183;179437182 |
| Novex-1 | 15619 | 47080;47081;47082 | chr2:178572457;178572456;178572455 | chr2:179437184;179437183;179437182 |
| Novex-2 | 15686 | 47281;47282;47283 | chr2:178572457;178572456;178572455 | chr2:179437184;179437183;179437182 |
| 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/Q | rs780238881  |
-1.267 | 1.0 | N | 0.673 | 0.434 | 0.304435445954 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30967E-04 | None | 0 | 1.78E-05 | 0 |
| R/Q | rs780238881 |
-1.267 | 1.0 | N | 0.673 | 0.434 | 0.304435445954 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs780238881 |
-1.267 | 1.0 | N | 0.673 | 0.434 | 0.304435445954 | gnomAD-4.0.0 | 1.86088E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56607E-04 | None | 0 | 0 | 4.24193E-06 | 1.64813E-04 | 4.80815E-05 |
| R/W | rs367904757 |
-0.937 | 1.0 | N | 0.888 | 0.53 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| R/W | rs367904757 |
-0.937 | 1.0 | N | 0.888 | 0.53 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/W | rs367904757 |
-0.937 | 1.0 | N | 0.888 | 0.53 | None | gnomAD-4.0.0 | 6.20327E-06 | None | None | None | None | N | None | 5.34559E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09029E-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 | 0.9958 | likely_pathogenic | 0.9912 | pathogenic | -2.163 | Highly Destabilizing | 1.0 | D | 0.532 | neutral | None | None | None | None | N |
| R/C | 0.8807 | likely_pathogenic | 0.8166 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| R/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| R/E | 0.9938 | likely_pathogenic | 0.9895 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.53 | neutral | None | None | None | None | N |
| R/F | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| R/G | 0.9922 | likely_pathogenic | 0.9849 | pathogenic | -2.494 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.502225378 | None | None | N |
| R/H | 0.8589 | likely_pathogenic | 0.8305 | pathogenic | -2.275 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| R/I | 0.9952 | likely_pathogenic | 0.9893 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| R/K | 0.5516 | ambiguous | 0.4705 | ambiguous | -1.474 | Destabilizing | 0.998 | D | 0.475 | neutral | None | None | None | None | N |
| R/L | 0.9794 | likely_pathogenic | 0.9641 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.507719107 | None | None | N |
| R/M | 0.988 | likely_pathogenic | 0.9738 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| R/N | 0.9984 | likely_pathogenic | 0.9973 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| R/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.548233257 | None | None | N |
| R/Q | 0.817 | likely_pathogenic | 0.6875 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.490131376 | None | None | N |
| R/S | 0.9987 | likely_pathogenic | 0.9975 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| R/T | 0.9978 | likely_pathogenic | 0.9946 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/V | 0.9944 | likely_pathogenic | 0.9885 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| R/W | 0.961 | likely_pathogenic | 0.9423 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.888 | deleterious | N | 0.50598436 | None | None | N |
| R/Y | 0.9845 | likely_pathogenic | 0.9808 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.914 | deleterious | 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.