Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9320 | 28183;28184;28185 | chr2:178711278;178711277;178711276 | chr2:179576005;179576004;179576003 |
| N2AB | 9003 | 27232;27233;27234 | chr2:178711278;178711277;178711276 | chr2:179576005;179576004;179576003 |
| N2A | 8076 | 24451;24452;24453 | chr2:178711278;178711277;178711276 | chr2:179576005;179576004;179576003 |
| 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/S | rs765897810  |
-3.542 | 1.0 | None | 0.892 | 0.894 | 0.901043367394 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| F/S | rs765897810 |
-3.542 | 1.0 | None | 0.892 | 0.894 | 0.901043367394 | 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/S | rs765897810 |
-3.542 | 1.0 | None | 0.892 | 0.894 | 0.901043367394 | gnomAD-4.0.0 | 5.12533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57336E-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 | 0.9668 | likely_pathogenic | 0.9648 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/C | 0.938 | likely_pathogenic | 0.9203 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/D | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -3.207 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| F/E | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -2.952 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| F/G | 0.992 | likely_pathogenic | 0.9916 | pathogenic | -2.654 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| F/H | 0.9887 | likely_pathogenic | 0.9878 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/I | 0.6104 | likely_pathogenic | 0.5975 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/K | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| F/L | 0.854 | likely_pathogenic | 0.843 | pathogenic | -0.646 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| F/M | 0.6977 | likely_pathogenic | 0.6771 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| F/N | 0.9958 | likely_pathogenic | 0.9947 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| F/Q | 0.9952 | likely_pathogenic | 0.9953 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| F/R | 0.9937 | likely_pathogenic | 0.9937 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| F/S | 0.9813 | likely_pathogenic | 0.9784 | pathogenic | -3.172 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/T | 0.9733 | likely_pathogenic | 0.968 | pathogenic | -2.783 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/V | 0.7019 | likely_pathogenic | 0.6766 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/W | 0.8454 | likely_pathogenic | 0.8443 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| F/Y | 0.6705 | likely_pathogenic | 0.646 | pathogenic | -0.547 | Destabilizing | 0.999 | D | 0.625 | 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.