Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20683 | 62272;62273;62274 | chr2:178589678;178589677;178589676 | chr2:179454405;179454404;179454403 |
| N2AB | 19042 | 57349;57350;57351 | chr2:178589678;178589677;178589676 | chr2:179454405;179454404;179454403 |
| N2A | 18115 | 54568;54569;54570 | chr2:178589678;178589677;178589676 | chr2:179454405;179454404;179454403 |
| N2B | 11618 | 35077;35078;35079 | chr2:178589678;178589677;178589676 | chr2:179454405;179454404;179454403 |
| Novex-1 | 11743 | 35452;35453;35454 | chr2:178589678;178589677;178589676 | chr2:179454405;179454404;179454403 |
| Novex-2 | 11810 | 35653;35654;35655 | chr2:178589678;178589677;178589676 | chr2:179454405;179454404;179454403 |
| 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/I | rs1204341026  |
-0.255 | 0.996 | N | 0.41 | 0.471 | 0.537448724652 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/I | rs1204341026 |
-0.255 | 0.996 | N | 0.41 | 0.471 | 0.537448724652 | gnomAD-4.0.0 | 4.79022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29712E-06 | 0 | 0 |
| T/P | None | None | 0.996 | N | 0.407 | 0.494 | 0.489243007833 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85943E-06 | 0 | 0 |
| T/R | None | None | 0.959 | N | 0.375 | 0.37 | 0.575946966538 | gnomAD-4.0.0 | 6.84317E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99588E-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 | 0.2104 | likely_benign | 0.2101 | benign | -0.928 | Destabilizing | 0.906 | D | 0.395 | neutral | N | 0.479720712 | None | None | N |
| T/C | 0.7341 | likely_pathogenic | 0.6844 | pathogenic | -0.555 | Destabilizing | 0.999 | D | 0.393 | neutral | None | None | None | None | N |
| T/D | 0.4696 | ambiguous | 0.4404 | ambiguous | -0.192 | Destabilizing | 0.884 | D | 0.389 | neutral | None | None | None | None | N |
| T/E | 0.6232 | likely_pathogenic | 0.5768 | pathogenic | -0.18 | Destabilizing | 0.939 | D | 0.382 | neutral | None | None | None | None | N |
| T/F | 0.6086 | likely_pathogenic | 0.5305 | ambiguous | -0.906 | Destabilizing | 0.991 | D | 0.428 | neutral | None | None | None | None | N |
| T/G | 0.3471 | ambiguous | 0.3491 | ambiguous | -1.198 | Destabilizing | 0.939 | D | 0.377 | neutral | None | None | None | None | N |
| T/H | 0.3215 | likely_benign | 0.2773 | benign | -1.402 | Destabilizing | 0.1 | N | 0.288 | neutral | None | None | None | None | N |
| T/I | 0.7355 | likely_pathogenic | 0.7004 | pathogenic | -0.296 | Destabilizing | 0.996 | D | 0.41 | neutral | N | 0.498078457 | None | None | N |
| T/K | 0.5564 | ambiguous | 0.493 | ambiguous | -0.733 | Destabilizing | 0.92 | D | 0.384 | neutral | N | 0.510078323 | None | None | N |
| T/L | 0.3255 | likely_benign | 0.2962 | benign | -0.296 | Destabilizing | 0.969 | D | 0.375 | neutral | None | None | None | None | N |
| T/M | 0.2172 | likely_benign | 0.211 | benign | -0.008 | Destabilizing | 0.999 | D | 0.385 | neutral | None | None | None | None | N |
| T/N | 0.0939 | likely_benign | 0.0979 | benign | -0.681 | Destabilizing | 0.079 | N | 0.072 | neutral | None | None | None | None | N |
| T/P | 0.7654 | likely_pathogenic | 0.709 | pathogenic | -0.475 | Destabilizing | 0.996 | D | 0.407 | neutral | N | 0.498585436 | None | None | N |
| T/Q | 0.4054 | ambiguous | 0.3758 | ambiguous | -0.848 | Destabilizing | 0.991 | D | 0.403 | neutral | None | None | None | None | N |
| T/R | 0.5021 | ambiguous | 0.4372 | ambiguous | -0.498 | Destabilizing | 0.959 | D | 0.375 | neutral | N | 0.485932027 | None | None | N |
| T/S | 0.1239 | likely_benign | 0.1313 | benign | -1.01 | Destabilizing | 0.826 | D | 0.441 | neutral | N | 0.446506847 | None | None | N |
| T/V | 0.5676 | likely_pathogenic | 0.5386 | ambiguous | -0.475 | Destabilizing | 0.99 | D | 0.401 | neutral | None | None | None | None | N |
| T/W | 0.8789 | likely_pathogenic | 0.835 | pathogenic | -0.805 | Destabilizing | 0.999 | D | 0.513 | neutral | None | None | None | None | N |
| T/Y | 0.48 | ambiguous | 0.3884 | ambiguous | -0.592 | Destabilizing | 0.982 | D | 0.438 | 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.