Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3219 | 9880;9881;9882 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
| N2AB | 3219 | 9880;9881;9882 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
| N2A | 3219 | 9880;9881;9882 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
| N2B | 3173 | 9742;9743;9744 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
| Novex-1 | 3173 | 9742;9743;9744 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
| Novex-2 | 3173 | 9742;9743;9744 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
| Novex-3 | 3219 | 9880;9881;9882 | chr2:178766429;178766428;178766427 | chr2:179631156;179631155;179631154 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs1385851793  |
-1.183 | 1.0 | N | 0.72 | 0.342 | 0.324161360171 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/N | rs1385851793 |
-1.183 | 1.0 | N | 0.72 | 0.342 | 0.324161360171 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/N | rs1385851793 |
-1.183 | 1.0 | N | 0.72 | 0.342 | 0.324161360171 | gnomAD-4.0.0 | 2.72623E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.64414E-05 | 0 | 1.60051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.3222 | likely_benign | 0.3306 | benign | -1.536 | Destabilizing | 0.999 | D | 0.57 | neutral | N | 0.381556932 | None | None | N |
| T/C | 0.7794 | likely_pathogenic | 0.7585 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/D | 0.942 | likely_pathogenic | 0.937 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/E | 0.8813 | likely_pathogenic | 0.8687 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| T/F | 0.7408 | likely_pathogenic | 0.7475 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| T/G | 0.7913 | likely_pathogenic | 0.7829 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| T/H | 0.6958 | likely_pathogenic | 0.6826 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/I | 0.4711 | ambiguous | 0.4957 | ambiguous | -0.371 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.403327267 | None | None | N |
| T/K | 0.8139 | likely_pathogenic | 0.8108 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| T/L | 0.3791 | ambiguous | 0.3656 | ambiguous | -0.371 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| T/M | 0.2661 | likely_benign | 0.2673 | benign | -0.578 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/N | 0.5435 | ambiguous | 0.5404 | ambiguous | -0.765 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.442703468 | None | None | N |
| T/P | 0.9569 | likely_pathogenic | 0.9556 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.44294173 | None | None | N |
| T/Q | 0.699 | likely_pathogenic | 0.6876 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| T/R | 0.6784 | likely_pathogenic | 0.6921 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| T/S | 0.3188 | likely_benign | 0.308 | benign | -1.102 | Destabilizing | 0.999 | D | 0.562 | neutral | N | 0.331265224 | None | None | N |
| T/V | 0.3336 | likely_benign | 0.3565 | ambiguous | -0.735 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| T/W | 0.9375 | likely_pathogenic | 0.9355 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| T/Y | 0.7772 | likely_pathogenic | 0.7582 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.838 | 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.