Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26567 | 79924;79925;79926 | chr2:178566433;178566432;178566431 | chr2:179431160;179431159;179431158 |
| N2AB | 24926 | 75001;75002;75003 | chr2:178566433;178566432;178566431 | chr2:179431160;179431159;179431158 |
| N2A | 23999 | 72220;72221;72222 | chr2:178566433;178566432;178566431 | chr2:179431160;179431159;179431158 |
| N2B | 17502 | 52729;52730;52731 | chr2:178566433;178566432;178566431 | chr2:179431160;179431159;179431158 |
| Novex-1 | 17627 | 53104;53105;53106 | chr2:178566433;178566432;178566431 | chr2:179431160;179431159;179431158 |
| Novex-2 | 17694 | 53305;53306;53307 | chr2:178566433;178566432;178566431 | chr2:179431160;179431159;179431158 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 1.0 | D | 0.832 | 0.728 | 0.821846609612 | gnomAD-4.0.0 | 6.84343E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| N/S | rs183844833  |
-1.408 | 0.999 | N | 0.63 | 0.527 | None | gnomAD-2.1.1 | 1.33998E-03 | None | None | None | None | N | None | 6.61266E-04 | 0 | None | 0 | 1.75367E-02 | None | 4.57576E-04 | None | 0 | 7.82E-06 | 2.81136E-04 |
| N/S | rs183844833 |
-1.408 | 0.999 | N | 0.63 | 0.527 | None | gnomAD-3.1.2 | 6.83725E-04 | None | None | None | None | N | None | 6.75513E-04 | 6.56E-05 | 0 | 0 | 1.39373E-02 | None | 0 | 0 | 0 | 6.21118E-04 | 0 |
| N/S | rs183844833 |
-1.408 | 0.999 | N | 0.63 | 0.527 | None | 1000 genomes | 2.99521E-03 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 1.29E-02 | 0 | None | None | None | 1E-03 | None |
| N/S | rs183844833 |
-1.408 | 0.999 | N | 0.63 | 0.527 | None | gnomAD-4.0.0 | 3.40258E-04 | None | None | None | None | N | None | 4.66443E-04 | 1.66689E-05 | None | 0 | 9.03171E-03 | None | 0 | 0 | 7.6292E-06 | 3.51347E-04 | 1.07258E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9914 | likely_pathogenic | 0.9895 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| N/C | 0.9396 | likely_pathogenic | 0.9328 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| N/D | 0.9823 | likely_pathogenic | 0.9751 | pathogenic | -2.195 | Highly Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.531033466 | None | None | N |
| N/E | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -1.978 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| N/F | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| N/G | 0.9661 | likely_pathogenic | 0.9642 | pathogenic | -1.769 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| N/H | 0.9524 | likely_pathogenic | 0.9549 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.551419127 | None | None | N |
| N/I | 0.9923 | likely_pathogenic | 0.9916 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.551926106 | None | None | N |
| N/K | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.527527974 | None | None | N |
| N/L | 0.9615 | likely_pathogenic | 0.9583 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| N/M | 0.9919 | likely_pathogenic | 0.9908 | pathogenic | -0.276 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| N/P | 0.9934 | likely_pathogenic | 0.9942 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/Q | 0.9943 | likely_pathogenic | 0.9942 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/R | 0.9923 | likely_pathogenic | 0.9929 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| N/S | 0.6951 | likely_pathogenic | 0.5938 | pathogenic | -1.547 | Destabilizing | 0.999 | D | 0.63 | neutral | N | 0.510776391 | None | None | N |
| N/T | 0.9394 | likely_pathogenic | 0.9316 | pathogenic | -1.161 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.50126651 | None | None | N |
| N/V | 0.9882 | likely_pathogenic | 0.9867 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| N/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| N/Y | 0.9886 | likely_pathogenic | 0.9891 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.551419127 | 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.