Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16618 | 50077;50078;50079 | chr2:178612869;178612868;178612867 | chr2:179477596;179477595;179477594 |
| N2AB | 14977 | 45154;45155;45156 | chr2:178612869;178612868;178612867 | chr2:179477596;179477595;179477594 |
| N2A | 14050 | 42373;42374;42375 | chr2:178612869;178612868;178612867 | chr2:179477596;179477595;179477594 |
| N2B | 7553 | 22882;22883;22884 | chr2:178612869;178612868;178612867 | chr2:179477596;179477595;179477594 |
| Novex-1 | 7678 | 23257;23258;23259 | chr2:178612869;178612868;178612867 | chr2:179477596;179477595;179477594 |
| Novex-2 | 7745 | 23458;23459;23460 | chr2:178612869;178612868;178612867 | chr2:179477596;179477595;179477594 |
| 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/E | rs767129130  |
-1.253 | 0.201 | N | 0.578 | 0.236 | 0.48235735 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/E | rs767129130 |
-1.253 | 0.201 | N | 0.578 | 0.236 | 0.48235735 | gnomAD-4.0.0 | 1.36935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79967E-06 | 0 | 0 |
| G/R | rs1418313981 |
None | 0.004 | D | 0.365 | 0.292 | 0.51390123 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1418313981 |
None | 0.004 | D | 0.365 | 0.292 | 0.51390123 | gnomAD-4.0.0 | 3.8494E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.57001E-05 | 0 | 4.79235E-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 | 0.3443 | ambiguous | 0.3482 | ambiguous | -0.542 | Destabilizing | 0.334 | N | 0.393 | neutral | N | 0.4929558 | None | None | N |
| G/C | 0.5044 | ambiguous | 0.5349 | ambiguous | -0.879 | Destabilizing | 0.992 | D | 0.599 | neutral | None | None | None | None | N |
| G/D | 0.3088 | likely_benign | 0.3944 | ambiguous | -1.102 | Destabilizing | 0.617 | D | 0.451 | neutral | None | None | None | None | N |
| G/E | 0.368 | ambiguous | 0.4577 | ambiguous | -1.238 | Destabilizing | 0.201 | N | 0.578 | neutral | N | 0.4929558 | None | None | N |
| G/F | 0.8077 | likely_pathogenic | 0.8304 | pathogenic | -1.098 | Destabilizing | 0.972 | D | 0.607 | neutral | None | None | None | None | N |
| G/H | 0.5373 | ambiguous | 0.6273 | pathogenic | -0.92 | Destabilizing | 0.92 | D | 0.587 | neutral | None | None | None | None | N |
| G/I | 0.7493 | likely_pathogenic | 0.7825 | pathogenic | -0.5 | Destabilizing | 0.92 | D | 0.619 | neutral | None | None | None | None | N |
| G/K | 0.4686 | ambiguous | 0.626 | pathogenic | -1.252 | Destabilizing | 0.001 | N | 0.282 | neutral | None | None | None | None | N |
| G/L | 0.6868 | likely_pathogenic | 0.7217 | pathogenic | -0.5 | Destabilizing | 0.617 | D | 0.587 | neutral | None | None | None | None | N |
| G/M | 0.6731 | likely_pathogenic | 0.7096 | pathogenic | -0.442 | Destabilizing | 0.972 | D | 0.593 | neutral | None | None | None | None | N |
| G/N | 0.2696 | likely_benign | 0.2925 | benign | -0.829 | Destabilizing | 0.617 | D | 0.331 | neutral | None | None | None | None | N |
| G/P | 0.9772 | likely_pathogenic | 0.9824 | pathogenic | -0.477 | Destabilizing | 0.92 | D | 0.6 | neutral | None | None | None | None | N |
| G/Q | 0.4346 | ambiguous | 0.5264 | ambiguous | -1.122 | Destabilizing | 0.059 | N | 0.443 | neutral | None | None | None | None | N |
| G/R | 0.4546 | ambiguous | 0.5842 | pathogenic | -0.733 | Destabilizing | 0.004 | N | 0.365 | neutral | D | 0.58803743 | None | None | N |
| G/S | 0.1994 | likely_benign | 0.1939 | benign | -0.955 | Destabilizing | 0.4 | N | 0.343 | neutral | None | None | None | None | N |
| G/T | 0.3801 | ambiguous | 0.4102 | ambiguous | -1.03 | Destabilizing | 0.617 | D | 0.559 | neutral | None | None | None | None | N |
| G/V | 0.6292 | likely_pathogenic | 0.6581 | pathogenic | -0.477 | Destabilizing | 0.549 | D | 0.603 | neutral | D | 0.66945624 | None | None | N |
| G/W | 0.6536 | likely_pathogenic | 0.7382 | pathogenic | -1.318 | Destabilizing | 0.992 | D | 0.601 | neutral | None | None | None | None | N |
| G/Y | 0.6362 | likely_pathogenic | 0.688 | pathogenic | -0.977 | Destabilizing | 0.972 | D | 0.615 | 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.