Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20630 | 62113;62114;62115 | chr2:178589837;178589836;178589835 | chr2:179454564;179454563;179454562 |
| N2AB | 18989 | 57190;57191;57192 | chr2:178589837;178589836;178589835 | chr2:179454564;179454563;179454562 |
| N2A | 18062 | 54409;54410;54411 | chr2:178589837;178589836;178589835 | chr2:179454564;179454563;179454562 |
| N2B | 11565 | 34918;34919;34920 | chr2:178589837;178589836;178589835 | chr2:179454564;179454563;179454562 |
| Novex-1 | 11690 | 35293;35294;35295 | chr2:178589837;178589836;178589835 | chr2:179454564;179454563;179454562 |
| Novex-2 | 11757 | 35494;35495;35496 | chr2:178589837;178589836;178589835 | chr2:179454564;179454563;179454562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 1.0 | N | 0.772 | 0.47 | 0.501685917333 | gnomAD-4.0.0 | 6.84328E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9959E-07 | 0 | 0 |
| A/G | None | None | 1.0 | N | 0.601 | 0.388 | 0.292787519742 | gnomAD-4.0.0 | 6.84328E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9959E-07 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.706 | 0.376 | 0.197625483188 | gnomAD-4.0.0 | 1.59194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85951E-06 | 0 | 0 |
| A/V | rs2154184048  |
None | 1.0 | N | 0.629 | 0.424 | 0.392547445146 | gnomAD-4.0.0 | 6.84328E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9959E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.541 | ambiguous | 0.4772 | ambiguous | -1.169 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/D | 0.9268 | likely_pathogenic | 0.9408 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.442308962 | None | None | N |
| A/E | 0.8692 | likely_pathogenic | 0.879 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/F | 0.752 | likely_pathogenic | 0.7049 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/G | 0.292 | likely_benign | 0.3197 | benign | -1.472 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.497066167 | None | None | N |
| A/H | 0.9239 | likely_pathogenic | 0.9269 | pathogenic | -1.805 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/I | 0.5183 | ambiguous | 0.4639 | ambiguous | 0.007 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.9521 | likely_pathogenic | 0.9549 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/L | 0.4498 | ambiguous | 0.3898 | ambiguous | 0.007 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/M | 0.5039 | ambiguous | 0.4665 | ambiguous | -0.111 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/N | 0.779 | likely_pathogenic | 0.8283 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/P | 0.8552 | likely_pathogenic | 0.8952 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.458931853 | None | None | N |
| A/Q | 0.8438 | likely_pathogenic | 0.8536 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/R | 0.929 | likely_pathogenic | 0.9261 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/S | 0.228 | likely_benign | 0.2664 | benign | -1.83 | Destabilizing | 1.0 | D | 0.614 | neutral | N | 0.443095609 | None | None | N |
| A/T | 0.1621 | likely_benign | 0.1754 | benign | -1.58 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.395456377 | None | None | N |
| A/V | 0.2382 | likely_benign | 0.2114 | benign | -0.3 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.450928445 | None | None | N |
| A/W | 0.9683 | likely_pathogenic | 0.9597 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/Y | 0.8618 | likely_pathogenic | 0.8566 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.803 | 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.