Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9267 | 28024;28025;28026 | chr2:178712031;178712030;178712029 | chr2:179576758;179576757;179576756 |
| N2AB | 8950 | 27073;27074;27075 | chr2:178712031;178712030;178712029 | chr2:179576758;179576757;179576756 |
| N2A | 8023 | 24292;24293;24294 | chr2:178712031;178712030;178712029 | chr2:179576758;179576757;179576756 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs755143548  |
-1.575 | 0.116 | N | 0.173 | 0.242 | 0.359763055319 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| V/A | rs755143548 |
-1.575 | 0.116 | N | 0.173 | 0.242 | 0.359763055319 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs755143548 |
-1.575 | 0.116 | N | 0.173 | 0.242 | 0.359763055319 | gnomAD-4.0.0 | 1.48724E-05 | None | None | None | None | N | None | 0 | 1.66694E-05 | None | 0 | 0 | None | 0 | 0 | 1.94952E-05 | 0 | 0 |
| V/G | None | None | 0.959 | D | 0.543 | 0.741 | 0.898619077821 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1476692496 |
None | 0.906 | D | 0.511 | 0.269 | 0.439763647824 | 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 |
| V/I | rs1476692496 |
None | 0.906 | D | 0.511 | 0.269 | 0.439763647824 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46968E-05 | 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 | 0.2321 | likely_benign | 0.2859 | benign | -2.111 | Highly Destabilizing | 0.116 | N | 0.173 | neutral | N | 0.487615256 | None | None | N |
| V/C | 0.9223 | likely_pathogenic | 0.9381 | pathogenic | -2.419 | Highly Destabilizing | 1.0 | D | 0.554 | neutral | None | None | None | None | N |
| V/D | 0.9732 | likely_pathogenic | 0.9848 | pathogenic | -2.936 | Highly Destabilizing | 0.994 | D | 0.615 | neutral | D | 0.559793141 | None | None | N |
| V/E | 0.955 | likely_pathogenic | 0.9729 | pathogenic | -2.8 | Highly Destabilizing | 0.984 | D | 0.563 | neutral | None | None | None | None | N |
| V/F | 0.8009 | likely_pathogenic | 0.8894 | pathogenic | -1.494 | Destabilizing | 0.998 | D | 0.617 | neutral | D | 0.540928417 | None | None | N |
| V/G | 0.5773 | likely_pathogenic | 0.6779 | pathogenic | -2.535 | Highly Destabilizing | 0.959 | D | 0.543 | neutral | D | 0.541435396 | None | None | N |
| V/H | 0.9896 | likely_pathogenic | 0.9944 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.572 | neutral | None | None | None | None | N |
| V/I | 0.1421 | likely_benign | 0.1743 | benign | -0.962 | Destabilizing | 0.906 | D | 0.511 | neutral | D | 0.535081129 | None | None | N |
| V/K | 0.9757 | likely_pathogenic | 0.9851 | pathogenic | -1.782 | Destabilizing | 0.984 | D | 0.582 | neutral | None | None | None | None | N |
| V/L | 0.5942 | likely_pathogenic | 0.7372 | pathogenic | -0.962 | Destabilizing | 0.906 | D | 0.473 | neutral | N | 0.490639705 | None | None | N |
| V/M | 0.4639 | ambiguous | 0.596 | pathogenic | -1.305 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| V/N | 0.9153 | likely_pathogenic | 0.9454 | pathogenic | -2.065 | Highly Destabilizing | 0.995 | D | 0.608 | neutral | None | None | None | None | N |
| V/P | 0.9121 | likely_pathogenic | 0.9393 | pathogenic | -1.318 | Destabilizing | 0.995 | D | 0.584 | neutral | None | None | None | None | N |
| V/Q | 0.9633 | likely_pathogenic | 0.9789 | pathogenic | -2.096 | Highly Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| V/R | 0.9621 | likely_pathogenic | 0.9764 | pathogenic | -1.417 | Destabilizing | 0.995 | D | 0.616 | neutral | None | None | None | None | N |
| V/S | 0.6024 | likely_pathogenic | 0.6581 | pathogenic | -2.657 | Highly Destabilizing | 0.939 | D | 0.489 | neutral | None | None | None | None | N |
| V/T | 0.3172 | likely_benign | 0.3616 | ambiguous | -2.391 | Highly Destabilizing | 0.293 | N | 0.243 | neutral | None | None | None | None | N |
| V/W | 0.995 | likely_pathogenic | 0.9979 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| V/Y | 0.9818 | likely_pathogenic | 0.9904 | pathogenic | -1.487 | Destabilizing | 0.999 | D | 0.595 | 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.