Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20626 | 62101;62102;62103 | chr2:178589849;178589848;178589847 | chr2:179454576;179454575;179454574 |
| N2AB | 18985 | 57178;57179;57180 | chr2:178589849;178589848;178589847 | chr2:179454576;179454575;179454574 |
| N2A | 18058 | 54397;54398;54399 | chr2:178589849;178589848;178589847 | chr2:179454576;179454575;179454574 |
| N2B | 11561 | 34906;34907;34908 | chr2:178589849;178589848;178589847 | chr2:179454576;179454575;179454574 |
| Novex-1 | 11686 | 35281;35282;35283 | chr2:178589849;178589848;178589847 | chr2:179454576;179454575;179454574 |
| Novex-2 | 11753 | 35482;35483;35484 | chr2:178589849;178589848;178589847 | chr2:179454576;179454575;179454574 |
| 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 | rs745731267  |
-0.37 | 1.0 | N | 0.739 | 0.363 | 0.202086224978 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| R/Q | rs745731267 |
-0.37 | 1.0 | N | 0.739 | 0.363 | 0.202086224978 | 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 | rs745731267 |
-0.37 | 1.0 | N | 0.739 | 0.363 | 0.202086224978 | gnomAD-4.0.0 | 1.05375E-05 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18686E-05 | 2.19631E-05 | 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 | 0.7618 | likely_pathogenic | 0.8021 | pathogenic | -1.042 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| R/C | 0.3366 | likely_benign | 0.3677 | ambiguous | -1.216 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/D | 0.8912 | likely_pathogenic | 0.9021 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/E | 0.6821 | likely_pathogenic | 0.7025 | pathogenic | -0.559 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| R/F | 0.8448 | likely_pathogenic | 0.8535 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| R/G | 0.5883 | likely_pathogenic | 0.6306 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.471813312 | None | None | N |
| R/H | 0.195 | likely_benign | 0.2146 | benign | -1.49 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/I | 0.6203 | likely_pathogenic | 0.6464 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| R/K | 0.1423 | likely_benign | 0.1646 | benign | -0.805 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | N |
| R/L | 0.5287 | ambiguous | 0.5755 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.49889575 | None | None | N |
| R/M | 0.5663 | likely_pathogenic | 0.6201 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| R/N | 0.7458 | likely_pathogenic | 0.7826 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/P | 0.7516 | likely_pathogenic | 0.8221 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.498722392 | None | None | N |
| R/Q | 0.1863 | likely_benign | 0.2047 | benign | -0.91 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.47926984 | None | None | N |
| R/S | 0.794 | likely_pathogenic | 0.8312 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/T | 0.5243 | ambiguous | 0.5889 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/V | 0.6825 | likely_pathogenic | 0.7018 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/W | 0.4653 | ambiguous | 0.4933 | ambiguous | -0.352 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/Y | 0.6312 | likely_pathogenic | 0.651 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.