Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5089 | 15490;15491;15492 | chr2:178734559;178734558;178734557 | chr2:179599286;179599285;179599284 |
| N2AB | 4772 | 14539;14540;14541 | chr2:178734559;178734558;178734557 | chr2:179599286;179599285;179599284 |
| N2A | 3845 | 11758;11759;11760 | chr2:178734559;178734558;178734557 | chr2:179599286;179599285;179599284 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/R | None | None | 1.0 | D | 0.853 | 0.871 | 0.909226227841 | gnomAD-4.0.0 | 1.37979E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8102E-06 | 0 | 0 |
| G/V | rs758657662  |
-0.282 | 1.0 | D | 0.809 | 0.891 | 0.960465558174 | gnomAD-2.1.1 | 8.39E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.84E-05 | 0 |
| G/V | rs758657662 |
-0.282 | 1.0 | D | 0.809 | 0.891 | 0.960465558174 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs758657662 |
-0.282 | 1.0 | D | 0.809 | 0.891 | 0.960465558174 | gnomAD-4.0.0 | 2.60064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.86277E-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 | 0.5576 | ambiguous | 0.4564 | ambiguous | -0.324 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.815226336 | None | None | I |
| G/C | 0.8073 | likely_pathogenic | 0.6819 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/D | 0.7416 | likely_pathogenic | 0.5857 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/E | 0.8182 | likely_pathogenic | 0.6685 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.633248014 | None | None | I |
| G/F | 0.9392 | likely_pathogenic | 0.8988 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/H | 0.9044 | likely_pathogenic | 0.8165 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/I | 0.941 | likely_pathogenic | 0.8571 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/K | 0.9497 | likely_pathogenic | 0.8815 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/L | 0.9139 | likely_pathogenic | 0.8607 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/M | 0.9255 | likely_pathogenic | 0.8661 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/N | 0.6297 | likely_pathogenic | 0.4751 | ambiguous | -0.382 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/P | 0.9937 | likely_pathogenic | 0.9864 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/Q | 0.8612 | likely_pathogenic | 0.744 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/R | 0.9034 | likely_pathogenic | 0.8084 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.745880241 | None | None | I |
| G/S | 0.3509 | ambiguous | 0.2519 | benign | -0.541 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/T | 0.7576 | likely_pathogenic | 0.6038 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/V | 0.8789 | likely_pathogenic | 0.7546 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.7813444 | None | None | I |
| G/W | 0.8993 | likely_pathogenic | 0.8217 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.8934 | likely_pathogenic | 0.8293 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.82 | deleterious | 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.