Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30057 | 90394;90395;90396 | chr2:178552731;178552730;178552729 | chr2:179417458;179417457;179417456 |
| N2AB | 28416 | 85471;85472;85473 | chr2:178552731;178552730;178552729 | chr2:179417458;179417457;179417456 |
| N2A | 27489 | 82690;82691;82692 | chr2:178552731;178552730;178552729 | chr2:179417458;179417457;179417456 |
| N2B | 20992 | 63199;63200;63201 | chr2:178552731;178552730;178552729 | chr2:179417458;179417457;179417456 |
| Novex-1 | 21117 | 63574;63575;63576 | chr2:178552731;178552730;178552729 | chr2:179417458;179417457;179417456 |
| Novex-2 | 21184 | 63775;63776;63777 | chr2:178552731;178552730;178552729 | chr2:179417458;179417457;179417456 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | None | None | 1.0 | N | 0.763 | 0.425 | 0.401753679984 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9258 | likely_pathogenic | 0.8995 | pathogenic | -0.839 | Destabilizing | 0.999 | D | 0.664 | neutral | N | 0.489766209 | None | None | N |
| D/C | 0.9807 | likely_pathogenic | 0.9772 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| D/E | 0.917 | likely_pathogenic | 0.9068 | pathogenic | -0.68 | Destabilizing | 0.996 | D | 0.439 | neutral | N | 0.482991806 | None | None | N |
| D/F | 0.9869 | likely_pathogenic | 0.9807 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/G | 0.912 | likely_pathogenic | 0.8893 | pathogenic | -1.191 | Destabilizing | 0.996 | D | 0.589 | neutral | N | 0.50577055 | None | None | N |
| D/H | 0.949 | likely_pathogenic | 0.9316 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.501882983 | None | None | N |
| D/I | 0.9798 | likely_pathogenic | 0.9725 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| D/K | 0.986 | likely_pathogenic | 0.9815 | pathogenic | -0.513 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| D/L | 0.9619 | likely_pathogenic | 0.9459 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/M | 0.9926 | likely_pathogenic | 0.9893 | pathogenic | 0.645 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| D/N | 0.512 | ambiguous | 0.4802 | ambiguous | -0.927 | Destabilizing | 0.884 | D | 0.26 | neutral | N | 0.472133224 | None | None | N |
| D/P | 0.9828 | likely_pathogenic | 0.9763 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Q | 0.9767 | likely_pathogenic | 0.9691 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/R | 0.9784 | likely_pathogenic | 0.9706 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/S | 0.7091 | likely_pathogenic | 0.6676 | pathogenic | -1.232 | Destabilizing | 0.997 | D | 0.571 | neutral | None | None | None | None | N |
| D/T | 0.8912 | likely_pathogenic | 0.8651 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| D/V | 0.9465 | likely_pathogenic | 0.9316 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.504503103 | None | None | N |
| D/W | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Y | 0.925 | likely_pathogenic | 0.8979 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.532268596 | 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.