Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3255 | 9988;9989;9990 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
| N2AB | 3255 | 9988;9989;9990 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
| N2A | 3255 | 9988;9989;9990 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
| N2B | 3209 | 9850;9851;9852 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
| Novex-1 | 3209 | 9850;9851;9852 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
| Novex-2 | 3209 | 9850;9851;9852 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
| Novex-3 | 3255 | 9988;9989;9990 | chr2:178764752;178764751;178764750 | chr2:179629479;179629478;179629477 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs763012497  |
-0.894 | 0.998 | N | 0.623 | 0.42 | 0.324161360171 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| P/A | rs763012497 |
-0.894 | 0.998 | N | 0.623 | 0.42 | 0.324161360171 | gnomAD-4.0.0 | 2.05242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69796E-06 | 0 | 0 |
| P/R | rs2090051409 |
None | 1.0 | N | 0.881 | 0.499 | 0.556658385457 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs2090051409 |
None | 1.0 | N | 0.881 | 0.499 | 0.556658385457 | gnomAD-4.0.0 | 2.56146E-06 | None | None | None | None | N | None | 1.6909E-05 | 0 | None | 0 | 2.42354E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | -0.892 | 0.999 | N | 0.775 | 0.443 | 0.453962894745 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| P/T | None | -0.892 | 0.999 | N | 0.775 | 0.443 | 0.453962894745 | gnomAD-4.0.0 | 2.73657E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69796E-06 | 1.15942E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.257 | likely_benign | 0.3552 | ambiguous | -1.028 | Destabilizing | 0.998 | D | 0.623 | neutral | N | 0.487311084 | None | None | N |
| P/C | 0.9692 | likely_pathogenic | 0.9818 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/D | 0.9719 | likely_pathogenic | 0.9821 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/E | 0.9206 | likely_pathogenic | 0.9383 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/F | 0.964 | likely_pathogenic | 0.9803 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/G | 0.8594 | likely_pathogenic | 0.9172 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/H | 0.8575 | likely_pathogenic | 0.9154 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.572027974 | None | None | N |
| P/I | 0.9041 | likely_pathogenic | 0.934 | pathogenic | -0.466 | Destabilizing | 0.998 | D | 0.833 | deleterious | None | None | None | None | N |
| P/K | 0.9534 | likely_pathogenic | 0.9665 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/L | 0.6433 | likely_pathogenic | 0.7592 | pathogenic | -0.466 | Destabilizing | 0.64 | D | 0.513 | neutral | N | 0.508545124 | None | None | N |
| P/M | 0.8551 | likely_pathogenic | 0.9089 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/N | 0.93 | likely_pathogenic | 0.9571 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Q | 0.8015 | likely_pathogenic | 0.8625 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/R | 0.8814 | likely_pathogenic | 0.9117 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.50696887 | None | None | N |
| P/S | 0.5883 | likely_pathogenic | 0.7403 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.479483542 | None | None | N |
| P/T | 0.5461 | ambiguous | 0.679 | pathogenic | -1.078 | Destabilizing | 0.999 | D | 0.775 | deleterious | N | 0.479212094 | None | None | N |
| P/V | 0.7813 | likely_pathogenic | 0.8392 | pathogenic | -0.617 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| P/W | 0.9843 | likely_pathogenic | 0.9904 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.9566 | likely_pathogenic | 0.9739 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.871 | 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.