Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30660 | 92203;92204;92205 | chr2:178549744;178549743;178549742 | chr2:179414471;179414470;179414469 |
| N2AB | 29019 | 87280;87281;87282 | chr2:178549744;178549743;178549742 | chr2:179414471;179414470;179414469 |
| N2A | 28092 | 84499;84500;84501 | chr2:178549744;178549743;178549742 | chr2:179414471;179414470;179414469 |
| N2B | 21595 | 65008;65009;65010 | chr2:178549744;178549743;178549742 | chr2:179414471;179414470;179414469 |
| Novex-1 | 21720 | 65383;65384;65385 | chr2:178549744;178549743;178549742 | chr2:179414471;179414470;179414469 |
| Novex-2 | 21787 | 65584;65585;65586 | chr2:178549744;178549743;178549742 | chr2:179414471;179414470;179414469 |
| 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 | rs765986284  |
-1.055 | 1.0 | N | 0.695 | 0.486 | 0.260735089382 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 6.46E-05 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| R/Q | rs765986284 |
-1.055 | 1.0 | N | 0.695 | 0.486 | 0.260735089382 | gnomAD-4.0.0 | 1.16322E-05 | None | None | None | None | N | None | 2.98846E-05 | 8.94574E-05 | None | 0 | 0 | None | 0 | 0 | 9.89458E-06 | 1.1595E-05 | 0 |
| R/W | rs377464325 |
-1.009 | 1.0 | N | 0.882 | 0.502 | None | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 1.24018E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40371E-04 |
| R/W | rs377464325 |
-1.009 | 1.0 | N | 0.882 | 0.502 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | rs377464325 |
-1.009 | 1.0 | N | 0.882 | 0.502 | None | gnomAD-4.0.0 | 1.17752E-05 | None | None | None | None | N | None | 1.3354E-04 | 6.67E-05 | None | 0 | 2.22926E-05 | None | 0 | 0 | 1.69528E-06 | 1.09815E-05 | 1.60123E-05 |
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 | 0.9897 | likely_pathogenic | 0.9886 | pathogenic | -1.952 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| R/C | 0.738 | likely_pathogenic | 0.7186 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| R/D | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| R/E | 0.9795 | likely_pathogenic | 0.9795 | pathogenic | -0.596 | Destabilizing | 0.999 | D | 0.549 | neutral | None | None | None | None | N |
| R/F | 0.9941 | likely_pathogenic | 0.9944 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| R/G | 0.9775 | likely_pathogenic | 0.9786 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.506833734 | None | None | N |
| R/H | 0.7925 | likely_pathogenic | 0.7737 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/I | 0.9855 | likely_pathogenic | 0.9838 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| R/K | 0.4999 | ambiguous | 0.5286 | ambiguous | -1.442 | Destabilizing | 0.998 | D | 0.472 | neutral | None | None | None | None | N |
| R/L | 0.9634 | likely_pathogenic | 0.9628 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.506073265 | None | None | N |
| R/M | 0.9615 | likely_pathogenic | 0.961 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| R/N | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| R/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.543295733 | None | None | N |
| R/Q | 0.5938 | likely_pathogenic | 0.5738 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.495398069 | None | None | N |
| R/S | 0.9958 | likely_pathogenic | 0.9955 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/T | 0.9897 | likely_pathogenic | 0.9888 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| R/V | 0.9839 | likely_pathogenic | 0.9831 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| R/W | 0.9246 | likely_pathogenic | 0.9221 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.882 | deleterious | N | 0.512567725 | None | None | N |
| R/Y | 0.9762 | likely_pathogenic | 0.9752 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.917 | 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.