Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14110 | 42553;42554;42555 | chr2:178634453;178634452;178634451 | chr2:179499180;179499179;179499178 |
| N2AB | 12469 | 37630;37631;37632 | chr2:178634453;178634452;178634451 | chr2:179499180;179499179;179499178 |
| N2A | 11542 | 34849;34850;34851 | chr2:178634453;178634452;178634451 | chr2:179499180;179499179;179499178 |
| N2B | 5045 | 15358;15359;15360 | chr2:178634453;178634452;178634451 | chr2:179499180;179499179;179499178 |
| Novex-1 | 5170 | 15733;15734;15735 | chr2:178634453;178634452;178634451 | chr2:179499180;179499179;179499178 |
| Novex-2 | 5237 | 15934;15935;15936 | chr2:178634453;178634452;178634451 | chr2:179499180;179499179;179499178 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs34706299  |
-2.453 | 0.994 | D | 0.455 | 0.411 | None | gnomAD-2.1.1 | 3.40026E-04 | None | None | None | None | N | None | 0 | 5.67E-05 | None | 1.06527E-03 | 0 | None | 8.50118E-04 | None | 4E-05 | 4.07837E-04 | 4.22416E-04 |
| V/A | rs34706299 |
-2.453 | 0.994 | D | 0.455 | 0.411 | None | gnomAD-3.1.2 | 3.02476E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 5.77034E-04 | 0 | None | 0 | 0 | 4.70616E-04 | 1.86799E-03 | 0 |
| V/A | rs34706299 |
-2.453 | 0.994 | D | 0.455 | 0.411 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| V/A | rs34706299 |
-2.453 | 0.994 | D | 0.455 | 0.411 | None | gnomAD-4.0.0 | 2.67782E-04 | None | None | None | None | N | None | 8.00064E-05 | 6.66889E-05 | None | 7.43695E-04 | 0 | None | 1.5623E-05 | 0 | 2.66217E-04 | 7.46908E-04 | 2.72253E-04 |
| V/I | rs1230881799 |
None | 0.543 | N | 0.209 | 0.2 | 0.580153967196 | gnomAD-4.0.0 | 2.73773E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69902E-06 | 0 | 1.65761E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8491 | likely_pathogenic | 0.7546 | pathogenic | -2.136 | Highly Destabilizing | 0.994 | D | 0.455 | neutral | D | 0.549246756 | None | None | N |
| V/C | 0.959 | likely_pathogenic | 0.9358 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| V/D | 0.9745 | likely_pathogenic | 0.9484 | pathogenic | -2.62 | Highly Destabilizing | 0.999 | D | 0.802 | deleterious | D | 0.626136059 | None | None | N |
| V/E | 0.8973 | likely_pathogenic | 0.8335 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/F | 0.6353 | likely_pathogenic | 0.5216 | ambiguous | -1.338 | Destabilizing | 0.998 | D | 0.736 | prob.delet. | D | 0.5837677 | None | None | N |
| V/G | 0.9158 | likely_pathogenic | 0.8476 | pathogenic | -2.587 | Highly Destabilizing | 0.999 | D | 0.783 | deleterious | D | 0.665675254 | None | None | N |
| V/H | 0.9654 | likely_pathogenic | 0.9346 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| V/I | 0.1087 | likely_benign | 0.0936 | benign | -0.914 | Destabilizing | 0.543 | D | 0.209 | neutral | N | 0.456923663 | None | None | N |
| V/K | 0.9314 | likely_pathogenic | 0.8686 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/L | 0.5227 | ambiguous | 0.4102 | ambiguous | -0.914 | Destabilizing | 0.948 | D | 0.413 | neutral | N | 0.509892553 | None | None | N |
| V/M | 0.5302 | ambiguous | 0.4234 | ambiguous | -0.844 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| V/N | 0.9244 | likely_pathogenic | 0.8713 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/P | 0.9981 | likely_pathogenic | 0.9967 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| V/Q | 0.8916 | likely_pathogenic | 0.8326 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/R | 0.8928 | likely_pathogenic | 0.802 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| V/S | 0.8966 | likely_pathogenic | 0.8243 | pathogenic | -2.546 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/T | 0.7691 | likely_pathogenic | 0.6625 | pathogenic | -2.299 | Highly Destabilizing | 0.996 | D | 0.527 | neutral | None | None | None | None | N |
| V/W | 0.9847 | likely_pathogenic | 0.9702 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/Y | 0.9202 | likely_pathogenic | 0.8646 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.75 | deleterious | 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.