Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31696 | 95311;95312;95313 | chr2:178546245;178546244;178546243 | chr2:179410972;179410971;179410970 |
| N2AB | 30055 | 90388;90389;90390 | chr2:178546245;178546244;178546243 | chr2:179410972;179410971;179410970 |
| N2A | 29128 | 87607;87608;87609 | chr2:178546245;178546244;178546243 | chr2:179410972;179410971;179410970 |
| N2B | 22631 | 68116;68117;68118 | chr2:178546245;178546244;178546243 | chr2:179410972;179410971;179410970 |
| Novex-1 | 22756 | 68491;68492;68493 | chr2:178546245;178546244;178546243 | chr2:179410972;179410971;179410970 |
| Novex-2 | 22823 | 68692;68693;68694 | chr2:178546245;178546244;178546243 | chr2:179410972;179410971;179410970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1205411867  |
-0.166 | 0.625 | D | 0.292 | 0.147 | 0.365120060079 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| T/A | rs1205411867 |
-0.166 | 0.625 | D | 0.292 | 0.147 | 0.365120060079 | 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 |
| T/A | rs1205411867 |
-0.166 | 0.625 | D | 0.292 | 0.147 | 0.365120060079 | gnomAD-4.0.0 | 5.12847E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.58428E-06 | 0 | 0 |
| T/S | None | None | 0.891 | N | 0.236 | 0.184 | 0.30921473904 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0911 | likely_benign | 0.0883 | benign | -0.26 | Destabilizing | 0.625 | D | 0.292 | neutral | D | 0.523783913 | None | None | I |
| T/C | 0.3587 | ambiguous | 0.3471 | ambiguous | -0.307 | Destabilizing | 0.998 | D | 0.424 | neutral | None | None | None | None | I |
| T/D | 0.4059 | ambiguous | 0.4025 | ambiguous | 0.176 | Stabilizing | 0.991 | D | 0.423 | neutral | None | None | None | None | I |
| T/E | 0.2539 | likely_benign | 0.2645 | benign | 0.091 | Stabilizing | 0.915 | D | 0.427 | neutral | None | None | None | None | I |
| T/F | 0.2102 | likely_benign | 0.2062 | benign | -0.835 | Destabilizing | 0.949 | D | 0.524 | neutral | None | None | None | None | I |
| T/G | 0.2566 | likely_benign | 0.252 | benign | -0.358 | Destabilizing | 0.915 | D | 0.525 | neutral | None | None | None | None | I |
| T/H | 0.26 | likely_benign | 0.2671 | benign | -0.652 | Destabilizing | 0.998 | D | 0.533 | neutral | None | None | None | None | I |
| T/I | 0.1349 | likely_benign | 0.1368 | benign | -0.126 | Destabilizing | 0.022 | N | 0.198 | neutral | D | 0.52517078 | None | None | I |
| T/K | 0.2398 | likely_benign | 0.2432 | benign | -0.302 | Destabilizing | 0.842 | D | 0.415 | neutral | None | None | None | None | I |
| T/L | 0.1003 | likely_benign | 0.1007 | benign | -0.126 | Destabilizing | 0.142 | N | 0.295 | neutral | None | None | None | None | I |
| T/M | 0.0795 | likely_benign | 0.0799 | benign | -0.034 | Destabilizing | 0.325 | N | 0.298 | neutral | None | None | None | None | I |
| T/N | 0.1199 | likely_benign | 0.1178 | benign | -0.111 | Destabilizing | 0.989 | D | 0.348 | neutral | D | 0.532115395 | None | None | I |
| T/P | 0.3943 | ambiguous | 0.3513 | ambiguous | -0.144 | Destabilizing | 0.989 | D | 0.439 | neutral | D | 0.529845881 | None | None | I |
| T/Q | 0.1923 | likely_benign | 0.1999 | benign | -0.332 | Destabilizing | 0.974 | D | 0.435 | neutral | None | None | None | None | I |
| T/R | 0.2082 | likely_benign | 0.2118 | benign | -0.053 | Destabilizing | 0.974 | D | 0.439 | neutral | None | None | None | None | I |
| T/S | 0.0968 | likely_benign | 0.0948 | benign | -0.296 | Destabilizing | 0.891 | D | 0.236 | neutral | N | 0.441128031 | None | None | I |
| T/V | 0.1078 | likely_benign | 0.1082 | benign | -0.144 | Destabilizing | 0.029 | N | 0.135 | neutral | None | None | None | None | I |
| T/W | 0.5503 | ambiguous | 0.5366 | ambiguous | -0.871 | Destabilizing | 0.998 | D | 0.557 | neutral | None | None | None | None | I |
| T/Y | 0.2857 | likely_benign | 0.2705 | benign | -0.567 | Destabilizing | 0.974 | D | 0.554 | neutral | 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.