Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31518 | 94777;94778;94779 | chr2:178546876;178546875;178546874 | chr2:179411603;179411602;179411601 |
| N2AB | 29877 | 89854;89855;89856 | chr2:178546876;178546875;178546874 | chr2:179411603;179411602;179411601 |
| N2A | 28950 | 87073;87074;87075 | chr2:178546876;178546875;178546874 | chr2:179411603;179411602;179411601 |
| N2B | 22453 | 67582;67583;67584 | chr2:178546876;178546875;178546874 | chr2:179411603;179411602;179411601 |
| Novex-1 | 22578 | 67957;67958;67959 | chr2:178546876;178546875;178546874 | chr2:179411603;179411602;179411601 |
| Novex-2 | 22645 | 68158;68159;68160 | chr2:178546876;178546875;178546874 | chr2:179411603;179411602;179411601 |
| 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 | rs377016580  |
-1.302 | 0.994 | D | 0.465 | 0.332 | None | gnomAD-2.1.1 | 1.45407E-04 | None | None | None | None | N | None | 4.15E-05 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.01839E-04 | 0 |
| V/A | rs377016580 |
-1.302 | 0.994 | D | 0.465 | 0.332 | None | gnomAD-3.1.2 | 2.30024E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.70478E-04 | 0 | 0 |
| V/A | rs377016580 |
-1.302 | 0.994 | D | 0.465 | 0.332 | None | gnomAD-4.0.0 | 3.16664E-04 | None | None | None | None | N | None | 8.0429E-05 | 1.68634E-05 | None | 0 | 0 | None | 3.15766E-05 | 0 | 4.10387E-04 | 0 | 2.7627E-04 |
| V/I | rs1697407245 |
None | 0.543 | N | 0.297 | 0.159 | 0.454518106513 | gnomAD-4.0.0 | 1.38687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09966E-07 | 1.19195E-05 | 0 |
| V/L | None | None | 0.948 | N | 0.331 | 0.247 | 0.560190409015 | gnomAD-4.0.0 | 6.93437E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.09966E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6443 | likely_pathogenic | 0.6575 | pathogenic | -1.287 | Destabilizing | 0.994 | D | 0.465 | neutral | D | 0.522466043 | None | None | N |
| V/C | 0.8997 | likely_pathogenic | 0.9097 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | N |
| V/D | 0.9601 | likely_pathogenic | 0.97 | pathogenic | -1.974 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.510240775 | None | None | N |
| V/E | 0.8784 | likely_pathogenic | 0.902 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| V/F | 0.5828 | likely_pathogenic | 0.6439 | pathogenic | -1.358 | Destabilizing | 0.391 | N | 0.233 | neutral | N | 0.490935206 | None | None | N |
| V/G | 0.8138 | likely_pathogenic | 0.8383 | pathogenic | -1.539 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.504671368 | None | None | N |
| V/H | 0.9504 | likely_pathogenic | 0.9572 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/I | 0.0766 | likely_benign | 0.0731 | benign | -0.7 | Destabilizing | 0.543 | D | 0.297 | neutral | N | 0.430611888 | None | None | N |
| V/K | 0.8277 | likely_pathogenic | 0.8398 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| V/L | 0.6619 | likely_pathogenic | 0.66 | pathogenic | -0.7 | Destabilizing | 0.948 | D | 0.331 | neutral | N | 0.471434918 | None | None | N |
| V/M | 0.3741 | ambiguous | 0.3862 | ambiguous | -0.692 | Destabilizing | 0.999 | D | 0.508 | neutral | None | None | None | None | N |
| V/N | 0.8804 | likely_pathogenic | 0.8981 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/P | 0.9898 | likely_pathogenic | 0.9915 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/Q | 0.8344 | likely_pathogenic | 0.8559 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/R | 0.7817 | likely_pathogenic | 0.8083 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| V/S | 0.7442 | likely_pathogenic | 0.7578 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| V/T | 0.4998 | ambiguous | 0.5022 | ambiguous | -1.387 | Destabilizing | 0.996 | D | 0.457 | neutral | None | None | None | None | N |
| V/W | 0.9801 | likely_pathogenic | 0.9836 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/Y | 0.9094 | likely_pathogenic | 0.9279 | pathogenic | -1.143 | Destabilizing | 0.995 | D | 0.581 | 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.