Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20399 | 61420;61421;61422 | chr2:178590530;178590529;178590528 | chr2:179455257;179455256;179455255 |
| N2AB | 18758 | 56497;56498;56499 | chr2:178590530;178590529;178590528 | chr2:179455257;179455256;179455255 |
| N2A | 17831 | 53716;53717;53718 | chr2:178590530;178590529;178590528 | chr2:179455257;179455256;179455255 |
| N2B | 11334 | 34225;34226;34227 | chr2:178590530;178590529;178590528 | chr2:179455257;179455256;179455255 |
| Novex-1 | 11459 | 34600;34601;34602 | chr2:178590530;178590529;178590528 | chr2:179455257;179455256;179455255 |
| Novex-2 | 11526 | 34801;34802;34803 | chr2:178590530;178590529;178590528 | chr2:179455257;179455256;179455255 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.824 | 0.531 | 0.36355261348 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| G/S | None | None | 1.0 | N | 0.798 | 0.524 | 0.265010934533 | gnomAD-4.0.0 | 1.59313E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86151E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9657 | likely_pathogenic | 0.9714 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.520888021 | None | None | I |
| G/C | 0.987 | likely_pathogenic | 0.9908 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.533676358 | None | None | I |
| G/D | 0.9957 | likely_pathogenic | 0.997 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.513290697 | None | None | I |
| G/E | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/N | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/R | 0.993 | likely_pathogenic | 0.9951 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.489603808 | None | None | I |
| G/S | 0.9532 | likely_pathogenic | 0.9627 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.501516318 | None | None | I |
| G/T | 0.9943 | likely_pathogenic | 0.9959 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/V | 0.9967 | likely_pathogenic | 0.9977 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.510545674 | None | None | I |
| G/W | 0.9957 | likely_pathogenic | 0.9976 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Y | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
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.