Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28993 | 87202;87203;87204 | chr2:178558482;178558481;178558480 | chr2:179423209;179423208;179423207 |
| N2AB | 27352 | 82279;82280;82281 | chr2:178558482;178558481;178558480 | chr2:179423209;179423208;179423207 |
| N2A | 26425 | 79498;79499;79500 | chr2:178558482;178558481;178558480 | chr2:179423209;179423208;179423207 |
| N2B | 19928 | 60007;60008;60009 | chr2:178558482;178558481;178558480 | chr2:179423209;179423208;179423207 |
| Novex-1 | 20053 | 60382;60383;60384 | chr2:178558482;178558481;178558480 | chr2:179423209;179423208;179423207 |
| Novex-2 | 20120 | 60583;60584;60585 | chr2:178558482;178558481;178558480 | chr2:179423209;179423208;179423207 |
| 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/T | rs1702352609  |
None | 0.997 | N | 0.66 | 0.313 | 0.297718772494 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1702352609 |
None | 0.997 | N | 0.66 | 0.313 | 0.297718772494 | gnomAD-4.0.0 | 2.02999E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-06 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.663 | 0.3 | 0.474876406573 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3555 | ambiguous | 0.3598 | ambiguous | -0.685 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/D | 0.4332 | ambiguous | 0.4755 | ambiguous | -1.587 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| A/E | 0.4774 | ambiguous | 0.5175 | ambiguous | -1.649 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.487137174 | None | None | N |
| A/F | 0.3554 | ambiguous | 0.3569 | ambiguous | -1.129 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/G | 0.1281 | likely_benign | 0.1269 | benign | -1.131 | Destabilizing | 0.03 | N | 0.34 | neutral | N | 0.410775334 | None | None | N |
| A/H | 0.5585 | ambiguous | 0.5764 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/I | 0.2364 | likely_benign | 0.2516 | benign | -0.488 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/K | 0.6086 | likely_pathogenic | 0.653 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/L | 0.2081 | likely_benign | 0.2183 | benign | -0.488 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| A/M | 0.2209 | likely_benign | 0.2252 | benign | -0.265 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| A/N | 0.3673 | ambiguous | 0.3798 | ambiguous | -1.006 | Destabilizing | 0.996 | D | 0.684 | prob.neutral | None | None | None | None | N |
| A/P | 0.8298 | likely_pathogenic | 0.8741 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.50120255 | None | None | N |
| A/Q | 0.4801 | ambiguous | 0.5033 | ambiguous | -1.219 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| A/R | 0.549 | ambiguous | 0.5961 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/S | 0.1101 | likely_benign | 0.1076 | benign | -1.195 | Destabilizing | 0.947 | D | 0.54 | neutral | N | 0.448770787 | None | None | N |
| A/T | 0.0916 | likely_benign | 0.0913 | benign | -1.187 | Destabilizing | 0.997 | D | 0.66 | neutral | N | 0.418082521 | None | None | N |
| A/V | 0.1244 | likely_benign | 0.1339 | benign | -0.593 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.469071489 | None | None | N |
| A/W | 0.8247 | likely_pathogenic | 0.8437 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/Y | 0.5591 | ambiguous | 0.5758 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | 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.