Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1844 | 5755;5756;5757 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
| N2AB | 1844 | 5755;5756;5757 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
| N2A | 1844 | 5755;5756;5757 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
| N2B | 1798 | 5617;5618;5619 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
| Novex-1 | 1798 | 5617;5618;5619 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
| Novex-2 | 1798 | 5617;5618;5619 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
| Novex-3 | 1844 | 5755;5756;5757 | chr2:178776334;178776333;178776332 | chr2:179641061;179641060;179641059 |
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/D | None | None | 1.0 | D | 0.783 | 0.626 | 0.841589584418 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85667E-06 | 0 | 0 |
| V/F | rs769474668  |
-0.824 | 1.0 | D | 0.714 | 0.548 | 0.793992609473 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| V/F | rs769474668 |
-0.824 | 1.0 | D | 0.714 | 0.548 | 0.793992609473 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 5.88E-05 | 0 | 0 |
| V/F | rs769474668 |
-0.824 | 1.0 | D | 0.714 | 0.548 | 0.793992609473 | gnomAD-4.0.0 | 1.73501E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.56666E-05 | 0 | 2.20339E-05 | 0 | 1.60036E-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 | 0.5518 | ambiguous | 0.6393 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.457 | neutral | D | 0.554119919 | None | None | I |
| V/C | 0.9296 | likely_pathogenic | 0.9458 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| V/D | 0.9082 | likely_pathogenic | 0.9395 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.538513126 | None | None | I |
| V/E | 0.765 | likely_pathogenic | 0.8339 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| V/F | 0.4213 | ambiguous | 0.4689 | ambiguous | -0.819 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.600072597 | None | None | I |
| V/G | 0.77 | likely_pathogenic | 0.83 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.638068412 | None | None | I |
| V/H | 0.8953 | likely_pathogenic | 0.9225 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| V/I | 0.0869 | likely_benign | 0.0921 | benign | -0.432 | Destabilizing | 0.997 | D | 0.395 | neutral | N | 0.502477329 | None | None | I |
| V/K | 0.8478 | likely_pathogenic | 0.8914 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| V/L | 0.342 | ambiguous | 0.3973 | ambiguous | -0.432 | Destabilizing | 0.997 | D | 0.449 | neutral | N | 0.4672925 | None | None | I |
| V/M | 0.3372 | likely_benign | 0.3884 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| V/N | 0.7905 | likely_pathogenic | 0.8398 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| V/P | 0.9673 | likely_pathogenic | 0.9772 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| V/Q | 0.7283 | likely_pathogenic | 0.7878 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| V/R | 0.8053 | likely_pathogenic | 0.8609 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| V/S | 0.6204 | likely_pathogenic | 0.7058 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| V/T | 0.4748 | ambiguous | 0.5649 | pathogenic | -1.147 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | I |
| V/W | 0.9726 | likely_pathogenic | 0.9814 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| V/Y | 0.8709 | likely_pathogenic | 0.8994 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.728 | 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.