Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18135 | 54628;54629;54630 | chr2:178604284;178604283;178604282 | chr2:179469011;179469010;179469009 |
| N2AB | 16494 | 49705;49706;49707 | chr2:178604284;178604283;178604282 | chr2:179469011;179469010;179469009 |
| N2A | 15567 | 46924;46925;46926 | chr2:178604284;178604283;178604282 | chr2:179469011;179469010;179469009 |
| N2B | 9070 | 27433;27434;27435 | chr2:178604284;178604283;178604282 | chr2:179469011;179469010;179469009 |
| Novex-1 | 9195 | 27808;27809;27810 | chr2:178604284;178604283;178604282 | chr2:179469011;179469010;179469009 |
| Novex-2 | 9262 | 28009;28010;28011 | chr2:178604284;178604283;178604282 | chr2:179469011;179469010;179469009 |
| 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 | rs776471324  |
-1.617 | 0.012 | N | 0.324 | 0.262 | 0.200317383148 | gnomAD-2.1.1 | 5.71E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.15E-05 | 0 |
| G/D | rs776471324 |
-1.617 | 0.012 | N | 0.324 | 0.262 | 0.200317383148 | gnomAD-4.0.0 | 2.257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86855E-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 | 0.1451 | likely_benign | 0.1813 | benign | -0.58 | Destabilizing | 0.625 | D | 0.446 | neutral | N | 0.436630996 | None | None | N |
| G/C | 0.2874 | likely_benign | 0.3134 | benign | -0.758 | Destabilizing | 0.997 | D | 0.577 | neutral | N | 0.461606799 | None | None | N |
| G/D | 0.5707 | likely_pathogenic | 0.6897 | pathogenic | -1.627 | Destabilizing | 0.012 | N | 0.324 | neutral | N | 0.495199297 | None | None | N |
| G/E | 0.4234 | ambiguous | 0.5461 | ambiguous | -1.541 | Destabilizing | 0.007 | N | 0.283 | neutral | None | None | None | None | N |
| G/F | 0.7251 | likely_pathogenic | 0.8199 | pathogenic | -0.677 | Destabilizing | 0.991 | D | 0.576 | neutral | None | None | None | None | N |
| G/H | 0.5521 | ambiguous | 0.6524 | pathogenic | -1.686 | Destabilizing | 0.993 | D | 0.518 | neutral | None | None | None | None | N |
| G/I | 0.4419 | ambiguous | 0.5844 | pathogenic | 0.266 | Stabilizing | 0.974 | D | 0.572 | neutral | None | None | None | None | N |
| G/K | 0.619 | likely_pathogenic | 0.7343 | pathogenic | -1.093 | Destabilizing | 0.067 | N | 0.298 | neutral | None | None | None | None | N |
| G/L | 0.5289 | ambiguous | 0.6575 | pathogenic | 0.266 | Stabilizing | 0.949 | D | 0.572 | neutral | None | None | None | None | N |
| G/M | 0.5356 | ambiguous | 0.6441 | pathogenic | 0.15 | Stabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | N |
| G/N | 0.4278 | ambiguous | 0.541 | ambiguous | -1.059 | Destabilizing | 0.842 | D | 0.519 | neutral | None | None | None | None | N |
| G/P | 0.9885 | likely_pathogenic | 0.9945 | pathogenic | 0.029 | Stabilizing | 0.974 | D | 0.532 | neutral | None | None | None | None | N |
| G/Q | 0.4143 | ambiguous | 0.5234 | ambiguous | -1.011 | Destabilizing | 0.904 | D | 0.531 | neutral | None | None | None | None | N |
| G/R | 0.4969 | ambiguous | 0.6006 | pathogenic | -1.102 | Destabilizing | 0.876 | D | 0.504 | neutral | N | 0.419680031 | None | None | N |
| G/S | 0.1171 | likely_benign | 0.1458 | benign | -1.36 | Destabilizing | 0.801 | D | 0.439 | neutral | N | 0.427299437 | None | None | N |
| G/T | 0.2154 | likely_benign | 0.2867 | benign | -1.175 | Destabilizing | 0.842 | D | 0.507 | neutral | None | None | None | None | N |
| G/V | 0.3282 | likely_benign | 0.4478 | ambiguous | 0.029 | Stabilizing | 0.966 | D | 0.571 | neutral | N | 0.415679721 | None | None | N |
| G/W | 0.6916 | likely_pathogenic | 0.7805 | pathogenic | -1.403 | Destabilizing | 0.998 | D | 0.541 | neutral | None | None | None | None | N |
| G/Y | 0.5957 | likely_pathogenic | 0.7207 | pathogenic | -0.807 | Destabilizing | 0.991 | D | 0.579 | neutral | 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.