Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13810 | 41653;41654;41655 | chr2:178636143;178636142;178636141 | chr2:179500870;179500869;179500868 |
| N2AB | 12169 | 36730;36731;36732 | chr2:178636143;178636142;178636141 | chr2:179500870;179500869;179500868 |
| N2A | 11242 | 33949;33950;33951 | chr2:178636143;178636142;178636141 | chr2:179500870;179500869;179500868 |
| N2B | 4745 | 14458;14459;14460 | chr2:178636143;178636142;178636141 | chr2:179500870;179500869;179500868 |
| Novex-1 | 4870 | 14833;14834;14835 | chr2:178636143;178636142;178636141 | chr2:179500870;179500869;179500868 |
| Novex-2 | 4937 | 15034;15035;15036 | chr2:178636143;178636142;178636141 | chr2:179500870;179500869;179500868 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1167247967  |
-1.733 | 0.996 | N | 0.553 | 0.341 | 0.434934176536 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/A | rs1167247967 |
-1.733 | 0.996 | N | 0.553 | 0.341 | 0.434934176536 | gnomAD-4.0.0 | 3.18564E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72115E-06 | 0 | 0 |
| V/L | None | None | 0.992 | N | 0.411 | 0.308 | 0.416328079214 | gnomAD-4.0.0 | 6.84494E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99696E-07 | 0 | 0 |
| V/M | rs763668057 |
-0.477 | 0.997 | N | 0.345 | 0.363 | 0.416202232284 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 1.66058E-04 |
| V/M | rs763668057 |
-0.477 | 0.997 | N | 0.345 | 0.363 | 0.416202232284 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs763668057 |
-0.477 | 0.997 | N | 0.345 | 0.363 | 0.416202232284 | gnomAD-4.0.0 | 4.15381E-05 | None | None | None | None | N | None | 1.33554E-05 | 6.67134E-05 | None | 0 | 2.24014E-05 | None | 0 | 0 | 5.00223E-05 | 0 | 3.20379E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.67 | likely_pathogenic | 0.673 | pathogenic | -1.713 | Destabilizing | 0.996 | D | 0.553 | neutral | N | 0.428137777 | None | None | N |
| V/C | 0.9515 | likely_pathogenic | 0.9542 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| V/D | 0.9888 | likely_pathogenic | 0.9887 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.721 | deleterious | None | None | None | None | N |
| V/E | 0.9796 | likely_pathogenic | 0.979 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.649 | prob.neutral | N | 0.50310986 | None | None | N |
| V/F | 0.8087 | likely_pathogenic | 0.8199 | pathogenic | -1.102 | Destabilizing | 0.999 | D | 0.657 | prob.neutral | None | None | None | None | N |
| V/G | 0.8863 | likely_pathogenic | 0.8837 | pathogenic | -2.133 | Highly Destabilizing | 0.999 | D | 0.695 | prob.delet. | N | 0.393258961 | None | None | N |
| V/H | 0.995 | likely_pathogenic | 0.9951 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.726 | deleterious | None | None | None | None | N |
| V/I | 0.1634 | likely_benign | 0.1705 | benign | -0.612 | Destabilizing | 0.985 | D | 0.566 | neutral | None | None | None | None | N |
| V/K | 0.9906 | likely_pathogenic | 0.9903 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.654 | prob.neutral | None | None | None | None | N |
| V/L | 0.8253 | likely_pathogenic | 0.8481 | pathogenic | -0.612 | Destabilizing | 0.992 | D | 0.411 | neutral | N | 0.357599729 | None | None | N |
| V/M | 0.7308 | likely_pathogenic | 0.7361 | pathogenic | -0.492 | Destabilizing | 0.997 | D | 0.345 | neutral | N | 0.502718135 | None | None | N |
| V/N | 0.9811 | likely_pathogenic | 0.9813 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| V/P | 0.9792 | likely_pathogenic | 0.977 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| V/Q | 0.9871 | likely_pathogenic | 0.9867 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/R | 0.9824 | likely_pathogenic | 0.9819 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.731 | deleterious | None | None | None | None | N |
| V/S | 0.8981 | likely_pathogenic | 0.8945 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| V/T | 0.6877 | likely_pathogenic | 0.6959 | pathogenic | -1.82 | Destabilizing | 0.998 | D | 0.606 | neutral | None | None | None | None | N |
| V/W | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| V/Y | 0.9826 | likely_pathogenic | 0.9835 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.645 | neutral | 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.