Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25282 | 76069;76070;76071 | chr2:178570288;178570287;178570286 | chr2:179435015;179435014;179435013 |
| N2AB | 23641 | 71146;71147;71148 | chr2:178570288;178570287;178570286 | chr2:179435015;179435014;179435013 |
| N2A | 22714 | 68365;68366;68367 | chr2:178570288;178570287;178570286 | chr2:179435015;179435014;179435013 |
| N2B | 16217 | 48874;48875;48876 | chr2:178570288;178570287;178570286 | chr2:179435015;179435014;179435013 |
| Novex-1 | 16342 | 49249;49250;49251 | chr2:178570288;178570287;178570286 | chr2:179435015;179435014;179435013 |
| Novex-2 | 16409 | 49450;49451;49452 | chr2:178570288;178570287;178570286 | chr2:179435015;179435014;179435013 |
| 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 | rs1230534095  |
-2.216 | 0.892 | N | 0.481 | 0.291 | 0.661236301376 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs1230534095 |
-2.216 | 0.892 | N | 0.481 | 0.291 | 0.661236301376 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| V/I | rs751776506 |
-0.741 | 0.873 | D | 0.509 | 0.243 | 0.634904748024 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/I | rs751776506 |
-0.741 | 0.873 | D | 0.509 | 0.243 | 0.634904748024 | gnomAD-4.0.0 | 4.77675E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57819E-06 | 0 | 0 |
| V/L | rs751776506 |
-0.745 | 0.773 | N | 0.5 | 0.334 | 0.645151217129 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs751776506 |
-0.745 | 0.773 | N | 0.5 | 0.334 | 0.645151217129 | gnomAD-4.0.0 | 1.59225E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3498 | ambiguous | 0.3008 | benign | -1.977 | Destabilizing | 0.892 | D | 0.481 | neutral | N | 0.477758929 | None | None | I |
| V/C | 0.8018 | likely_pathogenic | 0.8188 | pathogenic | -1.605 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | I |
| V/D | 0.8962 | likely_pathogenic | 0.8909 | pathogenic | -2.578 | Highly Destabilizing | 0.95 | D | 0.731 | prob.delet. | None | None | None | None | I |
| V/E | 0.4434 | ambiguous | 0.4547 | ambiguous | -2.43 | Highly Destabilizing | 0.056 | N | 0.413 | neutral | N | 0.498535965 | None | None | I |
| V/F | 0.4748 | ambiguous | 0.4682 | ambiguous | -1.288 | Destabilizing | 0.996 | D | 0.789 | deleterious | None | None | None | None | I |
| V/G | 0.6086 | likely_pathogenic | 0.5911 | pathogenic | -2.417 | Highly Destabilizing | 0.967 | D | 0.741 | deleterious | D | 0.524135657 | None | None | I |
| V/H | 0.8771 | likely_pathogenic | 0.8827 | pathogenic | -2.09 | Highly Destabilizing | 0.997 | D | 0.813 | deleterious | None | None | None | None | I |
| V/I | 0.114 | likely_benign | 0.11 | benign | -0.782 | Destabilizing | 0.873 | D | 0.509 | neutral | D | 0.52649057 | None | None | I |
| V/K | 0.5842 | likely_pathogenic | 0.6315 | pathogenic | -1.573 | Destabilizing | 0.95 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/L | 0.4784 | ambiguous | 0.5082 | ambiguous | -0.782 | Destabilizing | 0.773 | D | 0.5 | neutral | N | 0.496468614 | None | None | I |
| V/M | 0.2346 | likely_benign | 0.2354 | benign | -0.879 | Destabilizing | 0.996 | D | 0.64 | neutral | None | None | None | None | I |
| V/N | 0.7394 | likely_pathogenic | 0.7328 | pathogenic | -1.765 | Destabilizing | 0.975 | D | 0.825 | deleterious | None | None | None | None | I |
| V/P | 0.9909 | likely_pathogenic | 0.9933 | pathogenic | -1.152 | Destabilizing | 0.987 | D | 0.777 | deleterious | None | None | None | None | I |
| V/Q | 0.4225 | ambiguous | 0.4388 | ambiguous | -1.739 | Destabilizing | 0.95 | D | 0.768 | deleterious | None | None | None | None | I |
| V/R | 0.5406 | ambiguous | 0.5906 | pathogenic | -1.275 | Destabilizing | 0.975 | D | 0.827 | deleterious | None | None | None | None | I |
| V/S | 0.5065 | ambiguous | 0.4621 | ambiguous | -2.318 | Highly Destabilizing | 0.975 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/T | 0.3944 | ambiguous | 0.3645 | ambiguous | -2.051 | Highly Destabilizing | 0.916 | D | 0.527 | neutral | None | None | None | None | I |
| V/W | 0.9732 | likely_pathogenic | 0.9756 | pathogenic | -1.725 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | I |
| V/Y | 0.851 | likely_pathogenic | 0.8659 | pathogenic | -1.369 | Destabilizing | 0.996 | D | 0.792 | deleterious | 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.