Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32560 | 97903;97904;97905 | chr2:178541399;178541398;178541397 | chr2:179406126;179406125;179406124 |
| N2AB | 30919 | 92980;92981;92982 | chr2:178541399;178541398;178541397 | chr2:179406126;179406125;179406124 |
| N2A | 29992 | 90199;90200;90201 | chr2:178541399;178541398;178541397 | chr2:179406126;179406125;179406124 |
| N2B | 23495 | 70708;70709;70710 | chr2:178541399;178541398;178541397 | chr2:179406126;179406125;179406124 |
| Novex-1 | 23620 | 71083;71084;71085 | chr2:178541399;178541398;178541397 | chr2:179406126;179406125;179406124 |
| Novex-2 | 23687 | 71284;71285;71286 | chr2:178541399;178541398;178541397 | chr2:179406126;179406125;179406124 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs760762257  |
-0.736 | 1.0 | N | 0.795 | 0.361 | 0.614419055545 | gnomAD-2.1.1 | 2.88E-05 | None | None | None | None | I | None | 8.32E-05 | 0 | None | 0 | 1.55618E-04 | None | 0 | None | 0 | 1.57E-05 | 1.41123E-04 |
| R/C | rs760762257 |
-0.736 | 1.0 | N | 0.795 | 0.361 | 0.614419055545 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 1.92976E-04 | None | 9.44E-05 | 0 | 4.41E-05 | 0 | 0 |
| R/C | rs760762257 |
-0.736 | 1.0 | N | 0.795 | 0.361 | 0.614419055545 | gnomAD-4.0.0 | 2.29524E-05 | None | None | None | None | I | None | 5.34416E-05 | 0 | None | 0 | 3.79871E-04 | None | 7.82742E-05 | 0 | 7.63294E-06 | 2.20629E-05 | 0 |
| R/H | rs775600228 |
-1.714 | 1.0 | N | 0.715 | 0.478 | 0.332902724076 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| R/H | rs775600228 |
-1.714 | 1.0 | N | 0.715 | 0.478 | 0.332902724076 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs775600228 |
-1.714 | 1.0 | N | 0.715 | 0.478 | 0.332902724076 | gnomAD-4.0.0 | 1.11673E-05 | None | None | None | None | I | None | 0 | 3.3418E-05 | None | 0 | 0 | None | 1.56563E-05 | 0 | 8.48202E-06 | 3.31009E-05 | 3.20657E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9082 | likely_pathogenic | 0.9314 | pathogenic | -1.193 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | I |
| R/C | 0.4287 | ambiguous | 0.5084 | ambiguous | -1.192 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.470559091 | None | None | I |
| R/D | 0.9766 | likely_pathogenic | 0.981 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| R/E | 0.8675 | likely_pathogenic | 0.8879 | pathogenic | -0.178 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | I |
| R/F | 0.8864 | likely_pathogenic | 0.915 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| R/G | 0.8725 | likely_pathogenic | 0.9059 | pathogenic | -1.446 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.473268115 | None | None | I |
| R/H | 0.2465 | likely_benign | 0.3015 | benign | -1.637 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.469038153 | None | None | I |
| R/I | 0.6453 | likely_pathogenic | 0.7002 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| R/K | 0.2831 | likely_benign | 0.2952 | benign | -1.159 | Destabilizing | 0.998 | D | 0.506 | neutral | None | None | None | None | I |
| R/L | 0.6055 | likely_pathogenic | 0.6865 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.482000714 | None | None | I |
| R/M | 0.7607 | likely_pathogenic | 0.8143 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| R/N | 0.9554 | likely_pathogenic | 0.96 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| R/P | 0.9356 | likely_pathogenic | 0.9462 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.492564424 | None | None | I |
| R/Q | 0.2595 | likely_benign | 0.3194 | benign | -0.851 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| R/S | 0.9302 | likely_pathogenic | 0.9442 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.488561327 | None | None | I |
| R/T | 0.7747 | likely_pathogenic | 0.8188 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/V | 0.7476 | likely_pathogenic | 0.7896 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| R/W | 0.3904 | ambiguous | 0.4852 | ambiguous | -0.912 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| R/Y | 0.7403 | likely_pathogenic | 0.7989 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.783 | 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.