Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32545 | 97858;97859;97860 | chr2:178541444;178541443;178541442 | chr2:179406171;179406170;179406169 |
| N2AB | 30904 | 92935;92936;92937 | chr2:178541444;178541443;178541442 | chr2:179406171;179406170;179406169 |
| N2A | 29977 | 90154;90155;90156 | chr2:178541444;178541443;178541442 | chr2:179406171;179406170;179406169 |
| N2B | 23480 | 70663;70664;70665 | chr2:178541444;178541443;178541442 | chr2:179406171;179406170;179406169 |
| Novex-1 | 23605 | 71038;71039;71040 | chr2:178541444;178541443;178541442 | chr2:179406171;179406170;179406169 |
| Novex-2 | 23672 | 71239;71240;71241 | chr2:178541444;178541443;178541442 | chr2:179406171;179406170;179406169 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs754540983  |
0.215 | 1.0 | N | 0.697 | 0.354 | 0.264081493735 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| R/Q | rs754540983 |
0.215 | 1.0 | N | 0.697 | 0.354 | 0.264081493735 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs754540983 |
0.215 | 1.0 | N | 0.697 | 0.354 | 0.264081493735 | gnomAD-4.0.0 | 1.4876E-05 | None | None | None | None | I | None | 8.01154E-05 | 5.00283E-05 | None | 0 | 0 | None | 0 | 0 | 1.18685E-05 | 0 | 1.60185E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7216 | likely_pathogenic | 0.7494 | pathogenic | 0.088 | Stabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
| R/C | 0.3109 | likely_benign | 0.3419 | ambiguous | -0.191 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| R/D | 0.8666 | likely_pathogenic | 0.8823 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| R/E | 0.6659 | likely_pathogenic | 0.6924 | pathogenic | -0.128 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | I |
| R/F | 0.7347 | likely_pathogenic | 0.7664 | pathogenic | -0.078 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| R/G | 0.5419 | ambiguous | 0.5956 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.468204697 | None | None | I |
| R/H | 0.161 | likely_benign | 0.1802 | benign | -0.685 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| R/I | 0.4601 | ambiguous | 0.5008 | ambiguous | 0.598 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| R/K | 0.1987 | likely_benign | 0.2088 | benign | -0.07 | Destabilizing | 0.998 | D | 0.635 | neutral | None | None | None | None | I |
| R/L | 0.4417 | ambiguous | 0.4659 | ambiguous | 0.598 | Stabilizing | 1.0 | D | 0.621 | neutral | N | 0.47776833 | None | None | I |
| R/M | 0.5213 | ambiguous | 0.5669 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| R/N | 0.7535 | likely_pathogenic | 0.783 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| R/P | 0.9306 | likely_pathogenic | 0.9339 | pathogenic | 0.449 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.496162089 | None | None | I |
| R/Q | 0.1926 | likely_benign | 0.2123 | benign | -0.007 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.483712867 | None | None | I |
| R/S | 0.7596 | likely_pathogenic | 0.7841 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| R/T | 0.5351 | ambiguous | 0.5755 | pathogenic | -0.009 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| R/V | 0.5659 | likely_pathogenic | 0.6001 | pathogenic | 0.449 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| R/W | 0.3215 | likely_benign | 0.3589 | ambiguous | -0.191 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| R/Y | 0.5426 | ambiguous | 0.59 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | 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.