Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5526 | 16801;16802;16803 | chr2:178732485;178732484;178732483 | chr2:179597212;179597211;179597210 |
| N2AB | 5209 | 15850;15851;15852 | chr2:178732485;178732484;178732483 | chr2:179597212;179597211;179597210 |
| N2A | 4282 | 13069;13070;13071 | chr2:178732485;178732484;178732483 | chr2:179597212;179597211;179597210 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs752558197  |
None | 0.999 | D | 0.603 | 0.565 | None | gnomAD-4.0.0 | 3.42267E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49886E-06 | 0 | 0 |
| N/H | rs752558197 |
-1.277 | 1.0 | N | 0.733 | 0.631 | 0.438170831126 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 1.665E-04 |
| N/H | rs752558197 |
-1.277 | 1.0 | N | 0.733 | 0.631 | 0.438170831126 | gnomAD-4.0.0 | 3.42267E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.31891E-05 | 0 | 3.31532E-05 |
| N/S | rs767376352 |
-0.845 | 0.999 | N | 0.573 | 0.533 | 0.316198179892 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/S | rs767376352 |
-0.845 | 0.999 | N | 0.573 | 0.533 | 0.316198179892 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs767376352 |
-0.845 | 0.999 | N | 0.573 | 0.533 | 0.316198179892 | gnomAD-4.0.0 | 6.41093E-06 | None | None | None | None | N | None | 3.3849E-05 | 1.69641E-05 | None | 0 | 0 | None | 1.56868E-05 | 0 | 2.39515E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9725 | likely_pathogenic | 0.9844 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/C | 0.9325 | likely_pathogenic | 0.9567 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| N/D | 0.9253 | likely_pathogenic | 0.9518 | pathogenic | -0.774 | Destabilizing | 0.999 | D | 0.603 | neutral | D | 0.539092224 | None | None | N |
| N/E | 0.9951 | likely_pathogenic | 0.9967 | pathogenic | -0.744 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/F | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/G | 0.9221 | likely_pathogenic | 0.9571 | pathogenic | -1.113 | Destabilizing | 0.999 | D | 0.546 | neutral | None | None | None | None | N |
| N/H | 0.9209 | likely_pathogenic | 0.9445 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.512215785 | None | None | N |
| N/I | 0.9853 | likely_pathogenic | 0.99 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.540613162 | None | None | N |
| N/K | 0.9944 | likely_pathogenic | 0.9962 | pathogenic | -0.116 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.551208998 | None | None | N |
| N/L | 0.966 | likely_pathogenic | 0.9761 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/M | 0.985 | likely_pathogenic | 0.9896 | pathogenic | 0.344 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/P | 0.9908 | likely_pathogenic | 0.9929 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9932 | likely_pathogenic | 0.9956 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| N/R | 0.9895 | likely_pathogenic | 0.992 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/S | 0.4239 | ambiguous | 0.5365 | ambiguous | -0.654 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.495121807 | None | None | N |
| N/T | 0.8419 | likely_pathogenic | 0.8903 | pathogenic | -0.463 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | D | 0.532597764 | None | None | N |
| N/V | 0.9756 | likely_pathogenic | 0.9838 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| N/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9797 | likely_pathogenic | 0.9861 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.540359672 | 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.