Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24846 | 74761;74762;74763 | chr2:178571596;178571595;178571594 | chr2:179436323;179436322;179436321 |
| N2AB | 23205 | 69838;69839;69840 | chr2:178571596;178571595;178571594 | chr2:179436323;179436322;179436321 |
| N2A | 22278 | 67057;67058;67059 | chr2:178571596;178571595;178571594 | chr2:179436323;179436322;179436321 |
| N2B | 15781 | 47566;47567;47568 | chr2:178571596;178571595;178571594 | chr2:179436323;179436322;179436321 |
| Novex-1 | 15906 | 47941;47942;47943 | chr2:178571596;178571595;178571594 | chr2:179436323;179436322;179436321 |
| Novex-2 | 15973 | 48142;48143;48144 | chr2:178571596;178571595;178571594 | chr2:179436323;179436322;179436321 |
| 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 | rs545418788  |
-2.575 | 0.999 | D | 0.623 | 0.581 | 0.749798479323 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 9.99E-05 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/A | rs545418788 |
-2.575 | 0.999 | D | 0.623 | 0.581 | 0.749798479323 | 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 |
| V/A | rs545418788 |
-2.575 | 0.999 | D | 0.623 | 0.581 | 0.749798479323 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/A | rs545418788 |
-2.575 | 0.999 | D | 0.623 | 0.581 | 0.749798479323 | gnomAD-4.0.0 | 3.84539E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.09165E-05 | 0 | None | 0 | 0 | 4.78838E-06 | 0 | 0 |
| V/I | rs770230639 |
-0.325 | 0.997 | N | 0.573 | 0.254 | 0.66941582999 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs770230639 |
-0.325 | 0.997 | N | 0.573 | 0.254 | 0.66941582999 | gnomAD-4.0.0 | 5.47558E-06 | None | None | None | None | N | None | 0 | 2.23714E-05 | None | 0 | 0 | None | 0 | 0 | 2.69884E-06 | 4.63854E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8344 | likely_pathogenic | 0.8547 | pathogenic | -2.446 | Highly Destabilizing | 0.999 | D | 0.623 | neutral | D | 0.538020993 | None | None | N |
| V/C | 0.9769 | likely_pathogenic | 0.9782 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.459 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.561494072 | None | None | N |
| V/E | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -3.126 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/F | 0.9553 | likely_pathogenic | 0.9486 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.561240583 | None | None | N |
| V/G | 0.9723 | likely_pathogenic | 0.9773 | pathogenic | -3.077 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.561494072 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.004 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/I | 0.1218 | likely_benign | 0.1073 | benign | -0.606 | Destabilizing | 0.997 | D | 0.573 | neutral | N | 0.496282307 | None | None | N |
| V/K | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/L | 0.6787 | likely_pathogenic | 0.6434 | pathogenic | -0.606 | Destabilizing | 0.997 | D | 0.631 | neutral | N | 0.482624456 | None | None | N |
| V/M | 0.8576 | likely_pathogenic | 0.8424 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/N | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/P | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Q | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/R | 0.9949 | likely_pathogenic | 0.9952 | pathogenic | -2.195 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/S | 0.9832 | likely_pathogenic | 0.985 | pathogenic | -3.335 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/T | 0.8998 | likely_pathogenic | 0.9112 | pathogenic | -2.835 | Highly Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| V/W | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Y | 0.9975 | likely_pathogenic | 0.9971 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.806 | 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.