Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29054 | 87385;87386;87387 | chr2:178558194;178558193;178558192 | chr2:179422921;179422920;179422919 |
| N2AB | 27413 | 82462;82463;82464 | chr2:178558194;178558193;178558192 | chr2:179422921;179422920;179422919 |
| N2A | 26486 | 79681;79682;79683 | chr2:178558194;178558193;178558192 | chr2:179422921;179422920;179422919 |
| N2B | 19989 | 60190;60191;60192 | chr2:178558194;178558193;178558192 | chr2:179422921;179422920;179422919 |
| Novex-1 | 20114 | 60565;60566;60567 | chr2:178558194;178558193;178558192 | chr2:179422921;179422920;179422919 |
| Novex-2 | 20181 | 60766;60767;60768 | chr2:178558194;178558193;178558192 | chr2:179422921;179422920;179422919 |
| 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 | rs771605613  |
-1.276 | 0.37 | N | 0.239 | 0.353 | 0.632176559189 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/A | rs771605613 |
-1.276 | 0.37 | N | 0.239 | 0.353 | 0.632176559189 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs771605613 |
-1.276 | 0.37 | N | 0.239 | 0.353 | 0.632176559189 | gnomAD-4.0.0 | 2.48183E-05 | None | None | None | None | I | None | 0 | 1.67954E-05 | None | 0 | 0 | None | 0 | 0 | 3.2218E-05 | 0 | 1.60277E-05 |
| V/I | rs757488542 |
-0.052 | 0.973 | N | 0.479 | 0.339 | 0.677721526675 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| V/I | rs757488542 |
-0.052 | 0.973 | N | 0.479 | 0.339 | 0.677721526675 | gnomAD-4.0.0 | 4.79273E-06 | None | None | None | None | I | None | 0 | 4.63607E-05 | None | 0 | 0 | None | 0 | 0 | 2.86161E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2883 | likely_benign | 0.3446 | ambiguous | -1.585 | Destabilizing | 0.37 | N | 0.239 | neutral | N | 0.4650879 | None | None | I |
| V/C | 0.7648 | likely_pathogenic | 0.8134 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| V/D | 0.9109 | likely_pathogenic | 0.9283 | pathogenic | -1.576 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | I |
| V/E | 0.793 | likely_pathogenic | 0.8163 | pathogenic | -1.398 | Destabilizing | 0.997 | D | 0.724 | prob.delet. | N | 0.492171833 | None | None | I |
| V/F | 0.2727 | likely_benign | 0.2903 | benign | -0.958 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | I |
| V/G | 0.5941 | likely_pathogenic | 0.6452 | pathogenic | -2.054 | Highly Destabilizing | 0.987 | D | 0.685 | prob.neutral | N | 0.491918344 | None | None | I |
| V/H | 0.8662 | likely_pathogenic | 0.8777 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| V/I | 0.0794 | likely_benign | 0.0851 | benign | -0.312 | Destabilizing | 0.973 | D | 0.479 | neutral | N | 0.452542677 | None | None | I |
| V/K | 0.8138 | likely_pathogenic | 0.8338 | pathogenic | -1.143 | Destabilizing | 0.995 | D | 0.726 | prob.delet. | None | None | None | None | I |
| V/L | 0.2683 | likely_benign | 0.3005 | benign | -0.312 | Destabilizing | 0.948 | D | 0.467 | neutral | N | 0.46404775 | None | None | I |
| V/M | 0.1938 | likely_benign | 0.2133 | benign | -0.277 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | I |
| V/N | 0.7843 | likely_pathogenic | 0.8285 | pathogenic | -1.335 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | I |
| V/P | 0.9628 | likely_pathogenic | 0.9683 | pathogenic | -0.707 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | I |
| V/Q | 0.7498 | likely_pathogenic | 0.7752 | pathogenic | -1.229 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | I |
| V/R | 0.757 | likely_pathogenic | 0.7746 | pathogenic | -0.978 | Destabilizing | 0.998 | D | 0.785 | deleterious | None | None | None | None | I |
| V/S | 0.5535 | ambiguous | 0.6167 | pathogenic | -1.965 | Destabilizing | 0.99 | D | 0.641 | neutral | None | None | None | None | I |
| V/T | 0.3796 | ambiguous | 0.4316 | ambiguous | -1.639 | Destabilizing | 0.983 | D | 0.467 | neutral | None | None | None | None | I |
| V/W | 0.9253 | likely_pathogenic | 0.9354 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| V/Y | 0.7187 | likely_pathogenic | 0.7351 | pathogenic | -0.918 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | 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.