Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21912 | 65959;65960;65961 | chr2:178583069;178583068;178583067 | chr2:179447796;179447795;179447794 |
| N2AB | 20271 | 61036;61037;61038 | chr2:178583069;178583068;178583067 | chr2:179447796;179447795;179447794 |
| N2A | 19344 | 58255;58256;58257 | chr2:178583069;178583068;178583067 | chr2:179447796;179447795;179447794 |
| N2B | 12847 | 38764;38765;38766 | chr2:178583069;178583068;178583067 | chr2:179447796;179447795;179447794 |
| Novex-1 | 12972 | 39139;39140;39141 | chr2:178583069;178583068;178583067 | chr2:179447796;179447795;179447794 |
| Novex-2 | 13039 | 39340;39341;39342 | chr2:178583069;178583068;178583067 | chr2:179447796;179447795;179447794 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/L | rs1277465530  |
-1.323 | 0.013 | N | 0.137 | 0.184 | 0.444907495582 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| M/L | rs1277465530 |
-1.323 | 0.013 | N | 0.137 | 0.184 | 0.444907495582 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| M/L | rs1277465530 |
-1.323 | 0.013 | N | 0.137 | 0.184 | 0.444907495582 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.5349 | ambiguous | 0.4884 | ambiguous | -1.904 | Destabilizing | 0.187 | N | 0.331 | neutral | None | None | None | None | N |
| M/C | 0.8087 | likely_pathogenic | 0.7653 | pathogenic | -1.203 | Destabilizing | 0.965 | D | 0.49 | neutral | None | None | None | None | N |
| M/D | 0.9244 | likely_pathogenic | 0.9167 | pathogenic | -0.524 | Destabilizing | 0.965 | D | 0.625 | neutral | None | None | None | None | N |
| M/E | 0.6575 | likely_pathogenic | 0.6522 | pathogenic | -0.474 | Destabilizing | 0.888 | D | 0.558 | neutral | None | None | None | None | N |
| M/F | 0.3107 | likely_benign | 0.2715 | benign | -0.819 | Destabilizing | 0.561 | D | 0.378 | neutral | None | None | None | None | N |
| M/G | 0.8152 | likely_pathogenic | 0.7939 | pathogenic | -2.239 | Highly Destabilizing | 0.722 | D | 0.544 | neutral | None | None | None | None | N |
| M/H | 0.6753 | likely_pathogenic | 0.6326 | pathogenic | -1.249 | Destabilizing | 0.965 | D | 0.538 | neutral | None | None | None | None | N |
| M/I | 0.2491 | likely_benign | 0.2099 | benign | -1.022 | Destabilizing | None | N | 0.071 | neutral | N | 0.419616608 | None | None | N |
| M/K | 0.3707 | ambiguous | 0.3418 | ambiguous | -0.644 | Destabilizing | 0.662 | D | 0.466 | neutral | N | 0.486492932 | None | None | N |
| M/L | 0.1502 | likely_benign | 0.1306 | benign | -1.022 | Destabilizing | 0.013 | N | 0.137 | neutral | N | 0.458001638 | None | None | N |
| M/N | 0.6922 | likely_pathogenic | 0.6702 | pathogenic | -0.515 | Destabilizing | 0.965 | D | 0.591 | neutral | None | None | None | None | N |
| M/P | 0.8976 | likely_pathogenic | 0.8553 | pathogenic | -1.29 | Destabilizing | 0.965 | D | 0.591 | neutral | None | None | None | None | N |
| M/Q | 0.4397 | ambiguous | 0.4137 | ambiguous | -0.553 | Destabilizing | 0.965 | D | 0.457 | neutral | None | None | None | None | N |
| M/R | 0.3966 | ambiguous | 0.3604 | ambiguous | -0.193 | Destabilizing | 0.954 | D | 0.54 | neutral | D | 0.526498931 | None | None | N |
| M/S | 0.632 | likely_pathogenic | 0.6007 | pathogenic | -1.154 | Destabilizing | 0.722 | D | 0.437 | neutral | None | None | None | None | N |
| M/T | 0.2878 | likely_benign | 0.2642 | benign | -0.986 | Destabilizing | 0.285 | N | 0.391 | neutral | N | 0.493578436 | None | None | N |
| M/V | 0.116 | likely_benign | 0.1051 | benign | -1.29 | Destabilizing | 0.002 | N | 0.057 | neutral | N | 0.426867868 | None | None | N |
| M/W | 0.689 | likely_pathogenic | 0.6403 | pathogenic | -0.741 | Destabilizing | 0.991 | D | 0.48 | neutral | None | None | None | None | N |
| M/Y | 0.6038 | likely_pathogenic | 0.5492 | ambiguous | -0.798 | Destabilizing | 0.901 | D | 0.55 | 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.