Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2235 | 6928;6929;6930 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
| N2AB | 2235 | 6928;6929;6930 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
| N2A | 2235 | 6928;6929;6930 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
| N2B | 2189 | 6790;6791;6792 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
| Novex-1 | 2189 | 6790;6791;6792 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
| Novex-2 | 2189 | 6790;6791;6792 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
| Novex-3 | 2235 | 6928;6929;6930 | chr2:178775008;178775007;178775006 | chr2:179639735;179639734;179639733 |
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/I | rs1381061706  |
None | None | N | 0.178 | 0.1 | 0.128392430309 | gnomAD-4.0.0 | 6.8413E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| T/S | None | None | 0.012 | N | 0.227 | 0.09 | 0.0482279557977 | gnomAD-4.0.0 | 6.8413E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99342E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0725 | likely_benign | 0.0762 | benign | -0.692 | Destabilizing | None | N | 0.067 | neutral | N | 0.338354667 | None | None | N |
| T/C | 0.3697 | ambiguous | 0.3937 | ambiguous | -0.361 | Destabilizing | 0.628 | D | 0.358 | neutral | None | None | None | None | N |
| T/D | 0.2365 | likely_benign | 0.25 | benign | -0.085 | Destabilizing | 0.136 | N | 0.415 | neutral | None | None | None | None | N |
| T/E | 0.2059 | likely_benign | 0.214 | benign | -0.108 | Destabilizing | 0.072 | N | 0.375 | neutral | None | None | None | None | N |
| T/F | 0.1658 | likely_benign | 0.1715 | benign | -0.833 | Destabilizing | 0.214 | N | 0.445 | neutral | None | None | None | None | N |
| T/G | 0.1753 | likely_benign | 0.1871 | benign | -0.925 | Destabilizing | 0.038 | N | 0.365 | neutral | None | None | None | None | N |
| T/H | 0.1777 | likely_benign | 0.1798 | benign | -1.237 | Destabilizing | 0.864 | D | 0.377 | neutral | None | None | None | None | N |
| T/I | 0.1196 | likely_benign | 0.1232 | benign | -0.172 | Destabilizing | None | N | 0.178 | neutral | N | 0.34538753 | None | None | N |
| T/K | 0.1449 | likely_benign | 0.1465 | benign | -0.627 | Destabilizing | 0.072 | N | 0.322 | neutral | None | None | None | None | N |
| T/L | 0.0719 | likely_benign | 0.0735 | benign | -0.172 | Destabilizing | 0.002 | N | 0.211 | neutral | None | None | None | None | N |
| T/M | 0.0678 | likely_benign | 0.0688 | benign | 0.171 | Stabilizing | 0.001 | N | 0.207 | neutral | None | None | None | None | N |
| T/N | 0.0807 | likely_benign | 0.0832 | benign | -0.473 | Destabilizing | 0.295 | N | 0.303 | neutral | N | 0.280919885 | None | None | N |
| T/P | 0.287 | likely_benign | 0.3006 | benign | -0.314 | Destabilizing | 0.295 | N | 0.403 | neutral | N | 0.34887949 | None | None | N |
| T/Q | 0.1632 | likely_benign | 0.1675 | benign | -0.694 | Destabilizing | 0.214 | N | 0.395 | neutral | None | None | None | None | N |
| T/R | 0.1264 | likely_benign | 0.1274 | benign | -0.374 | Destabilizing | 0.214 | N | 0.412 | neutral | None | None | None | None | N |
| T/S | 0.0851 | likely_benign | 0.0884 | benign | -0.762 | Destabilizing | 0.012 | N | 0.227 | neutral | N | 0.328638079 | None | None | N |
| T/V | 0.1042 | likely_benign | 0.1057 | benign | -0.314 | Destabilizing | None | N | 0.079 | neutral | None | None | None | None | N |
| T/W | 0.48 | ambiguous | 0.4983 | ambiguous | -0.755 | Destabilizing | 0.864 | D | 0.397 | neutral | None | None | None | None | N |
| T/Y | 0.2033 | likely_benign | 0.2078 | benign | -0.525 | Destabilizing | 0.356 | N | 0.403 | 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.