Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10099 | 30520;30521;30522 | chr2:178702592;178702591;178702590 | chr2:179567319;179567318;179567317 |
| N2AB | 9782 | 29569;29570;29571 | chr2:178702592;178702591;178702590 | chr2:179567319;179567318;179567317 |
| N2A | 8855 | 26788;26789;26790 | chr2:178702592;178702591;178702590 | chr2:179567319;179567318;179567317 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs2075201214  |
None | 1.0 | None | 0.867 | 0.6 | 0.622959606287 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | None | None | 1.0 | None | 0.74 | 0.541 | 0.500742145641 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9743 | likely_pathogenic | 0.9731 | pathogenic | -1.156 | Destabilizing | 0.998 | D | 0.603 | neutral | None | None | None | None | N |
| C/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| C/F | 0.9927 | likely_pathogenic | 0.995 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| C/G | 0.9592 | likely_pathogenic | 0.9626 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| C/H | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| C/I | 0.993 | likely_pathogenic | 0.9941 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| C/K | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| C/L | 0.989 | likely_pathogenic | 0.9914 | pathogenic | -0.331 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| C/M | 0.9928 | likely_pathogenic | 0.9944 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| C/N | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| C/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| C/Q | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| C/S | 0.9925 | likely_pathogenic | 0.9915 | pathogenic | -1.689 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| C/T | 0.9859 | likely_pathogenic | 0.9847 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| C/V | 0.9633 | likely_pathogenic | 0.9648 | pathogenic | -0.589 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/W | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| C/Y | 0.998 | likely_pathogenic | 0.9989 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.85 | 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.