Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25434 | 76525;76526;76527 | chr2:178569832;178569831;178569830 | chr2:179434559;179434558;179434557 |
| N2AB | 23793 | 71602;71603;71604 | chr2:178569832;178569831;178569830 | chr2:179434559;179434558;179434557 |
| N2A | 22866 | 68821;68822;68823 | chr2:178569832;178569831;178569830 | chr2:179434559;179434558;179434557 |
| N2B | 16369 | 49330;49331;49332 | chr2:178569832;178569831;178569830 | chr2:179434559;179434558;179434557 |
| Novex-1 | 16494 | 49705;49706;49707 | chr2:178569832;178569831;178569830 | chr2:179434559;179434558;179434557 |
| Novex-2 | 16561 | 49906;49907;49908 | chr2:178569832;178569831;178569830 | chr2:179434559;179434558;179434557 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs774972434  |
-0.564 | 1.0 | N | 0.705 | 0.495 | 0.35139820857 | gnomAD-2.1.1 | 8.85E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.53851E-04 | None | 0 | 0 | 3.31455E-04 |
| G/D | rs774972434 |
-0.564 | 1.0 | N | 0.705 | 0.495 | 0.35139820857 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| G/D | rs774972434 |
-0.564 | 1.0 | N | 0.705 | 0.495 | 0.35139820857 | gnomAD-4.0.0 | 2.10742E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69544E-06 | 2.41604E-04 | 1.60169E-04 |
| G/R | None | None | 1.0 | D | 0.809 | 0.489 | 0.715051379167 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7352 | likely_pathogenic | 0.727 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.494229072 | None | None | I |
| G/C | 0.8134 | likely_pathogenic | 0.7811 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.512626496 | None | None | I |
| G/D | 0.9196 | likely_pathogenic | 0.8988 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.49933118 | None | None | I |
| G/E | 0.9425 | likely_pathogenic | 0.928 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/F | 0.9712 | likely_pathogenic | 0.9673 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.9442 | likely_pathogenic | 0.9177 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/I | 0.9578 | likely_pathogenic | 0.9529 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.951 | likely_pathogenic | 0.9031 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/L | 0.9482 | likely_pathogenic | 0.9437 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/M | 0.9635 | likely_pathogenic | 0.9568 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.8405 | likely_pathogenic | 0.8165 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| G/P | 0.9955 | likely_pathogenic | 0.9955 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Q | 0.9148 | likely_pathogenic | 0.8805 | pathogenic | -0.583 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/R | 0.8803 | likely_pathogenic | 0.8106 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.522715354 | None | None | I |
| G/S | 0.5248 | ambiguous | 0.5227 | ambiguous | -0.461 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.487974875 | None | None | I |
| G/T | 0.8919 | likely_pathogenic | 0.8832 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.9363 | likely_pathogenic | 0.9316 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.534071659 | None | None | I |
| G/W | 0.962 | likely_pathogenic | 0.9464 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Y | 0.9458 | likely_pathogenic | 0.935 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.772 | 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.