Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8864 | 26815;26816;26817 | chr2:178714068;178714067;178714066 | chr2:179578795;179578794;179578793 |
| N2AB | 8547 | 25864;25865;25866 | chr2:178714068;178714067;178714066 | chr2:179578795;179578794;179578793 |
| N2A | 7620 | 23083;23084;23085 | chr2:178714068;178714067;178714066 | chr2:179578795;179578794;179578793 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs773172873  |
-1.573 | 0.995 | N | 0.71 | 0.458 | 0.708942825371 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| F/L | rs762812203 |
-1.625 | 0.008 | N | 0.329 | 0.209 | 0.132336055621 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| F/L | rs762812203 |
-1.625 | 0.008 | N | 0.329 | 0.209 | 0.132336055621 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs762812203 |
-1.625 | 0.008 | N | 0.329 | 0.209 | 0.132336055621 | gnomAD-4.0.0 | 1.28148E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39349E-05 | 0 | 0 |
| F/S | rs773172873 |
-2.504 | 0.949 | N | 0.689 | 0.379 | None | 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 |
| F/S | rs773172873 |
-2.504 | 0.949 | N | 0.689 | 0.379 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| F/S | rs773172873 |
-2.504 | 0.949 | N | 0.689 | 0.379 | None | gnomAD-4.0.0 | 3.04499E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61484E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.7706 | likely_pathogenic | 0.8067 | pathogenic | -2.619 | Highly Destabilizing | 0.775 | D | 0.629 | neutral | None | None | None | None | N |
| F/C | 0.4008 | ambiguous | 0.424 | ambiguous | -1.374 | Destabilizing | 0.995 | D | 0.71 | prob.delet. | N | 0.502450917 | None | None | N |
| F/D | 0.9164 | likely_pathogenic | 0.9368 | pathogenic | -2.146 | Highly Destabilizing | 0.987 | D | 0.755 | deleterious | None | None | None | None | N |
| F/E | 0.8737 | likely_pathogenic | 0.8916 | pathogenic | -1.994 | Destabilizing | 0.961 | D | 0.731 | prob.delet. | None | None | None | None | N |
| F/G | 0.8594 | likely_pathogenic | 0.8907 | pathogenic | -3.004 | Highly Destabilizing | 0.961 | D | 0.723 | prob.delet. | None | None | None | None | N |
| F/H | 0.4864 | ambiguous | 0.5234 | ambiguous | -1.31 | Destabilizing | 0.923 | D | 0.687 | prob.neutral | None | None | None | None | N |
| F/I | 0.3236 | likely_benign | 0.3671 | ambiguous | -1.399 | Destabilizing | 0.565 | D | 0.579 | neutral | N | 0.504714497 | None | None | N |
| F/K | 0.7229 | likely_pathogenic | 0.7353 | pathogenic | -1.563 | Destabilizing | 0.961 | D | 0.729 | prob.delet. | None | None | None | None | N |
| F/L | 0.7209 | likely_pathogenic | 0.7663 | pathogenic | -1.399 | Destabilizing | 0.008 | N | 0.329 | neutral | N | 0.431792819 | None | None | N |
| F/M | 0.5039 | ambiguous | 0.5279 | ambiguous | -1.049 | Destabilizing | 0.923 | D | 0.633 | neutral | None | None | None | None | N |
| F/N | 0.683 | likely_pathogenic | 0.7198 | pathogenic | -1.795 | Destabilizing | 0.987 | D | 0.753 | deleterious | None | None | None | None | N |
| F/P | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -1.809 | Destabilizing | 0.987 | D | 0.755 | deleterious | None | None | None | None | N |
| F/Q | 0.699 | likely_pathogenic | 0.7337 | pathogenic | -1.848 | Destabilizing | 0.987 | D | 0.757 | deleterious | None | None | None | None | N |
| F/R | 0.5785 | likely_pathogenic | 0.6019 | pathogenic | -0.939 | Destabilizing | 0.961 | D | 0.752 | deleterious | None | None | None | None | N |
| F/S | 0.5624 | ambiguous | 0.6222 | pathogenic | -2.536 | Highly Destabilizing | 0.949 | D | 0.689 | prob.neutral | N | 0.477143893 | None | None | N |
| F/T | 0.6642 | likely_pathogenic | 0.6956 | pathogenic | -2.29 | Highly Destabilizing | 0.923 | D | 0.687 | prob.neutral | None | None | None | None | N |
| F/V | 0.3393 | likely_benign | 0.3824 | ambiguous | -1.809 | Destabilizing | 0.565 | D | 0.586 | neutral | N | 0.45969504 | None | None | N |
| F/W | 0.3545 | ambiguous | 0.3948 | ambiguous | -0.371 | Destabilizing | 0.989 | D | 0.623 | neutral | None | None | None | None | N |
| F/Y | 0.107 | likely_benign | 0.108 | benign | -0.664 | Destabilizing | 0.003 | N | 0.23 | neutral | N | 0.419863672 | 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.