Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35636 | 107131;107132;107133 | chr2:178528845;178528844;178528843 | chr2:179393572;179393571;179393570 |
| N2AB | 33995 | 102208;102209;102210 | chr2:178528845;178528844;178528843 | chr2:179393572;179393571;179393570 |
| N2A | 33068 | 99427;99428;99429 | chr2:178528845;178528844;178528843 | chr2:179393572;179393571;179393570 |
| N2B | 26571 | 79936;79937;79938 | chr2:178528845;178528844;178528843 | chr2:179393572;179393571;179393570 |
| Novex-1 | 26696 | 80311;80312;80313 | chr2:178528845;178528844;178528843 | chr2:179393572;179393571;179393570 |
| Novex-2 | 26763 | 80512;80513;80514 | chr2:178528845;178528844;178528843 | chr2:179393572;179393571;179393570 |
| 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/G | rs1482221696  |
None | 0.997 | N | 0.866 | 0.739 | 0.907856884783 | 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/G | rs1482221696 |
None | 0.997 | N | 0.866 | 0.739 | 0.907856884783 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| V/M | rs751243461 |
-0.374 | 0.982 | N | 0.71 | 0.546 | 0.614131634805 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | rs751243461 |
-0.374 | 0.982 | N | 0.71 | 0.546 | 0.614131634805 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs751243461 |
-0.374 | 0.982 | N | 0.71 | 0.546 | 0.614131634805 | gnomAD-4.0.0 | 1.17727E-05 | None | None | None | None | N | None | 1.33433E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4408E-05 | 1.09777E-05 | 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 | 0.514 | ambiguous | 0.5251 | ambiguous | -1.387 | Destabilizing | 0.863 | D | 0.669 | neutral | N | 0.508831731 | None | None | N |
| V/C | 0.9293 | likely_pathogenic | 0.9285 | pathogenic | -0.856 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| V/D | 0.9133 | likely_pathogenic | 0.9356 | pathogenic | -1.115 | Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | N |
| V/E | 0.8538 | likely_pathogenic | 0.8833 | pathogenic | -1.139 | Destabilizing | 0.997 | D | 0.852 | deleterious | N | 0.509442509 | None | None | N |
| V/F | 0.5785 | likely_pathogenic | 0.639 | pathogenic | -1.188 | Destabilizing | 0.986 | D | 0.776 | deleterious | None | None | None | None | N |
| V/G | 0.6188 | likely_pathogenic | 0.6389 | pathogenic | -1.685 | Destabilizing | 0.997 | D | 0.866 | deleterious | N | 0.509442509 | None | None | N |
| V/H | 0.9657 | likely_pathogenic | 0.971 | pathogenic | -1.239 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.1169 | likely_benign | 0.1169 | benign | -0.679 | Destabilizing | 0.026 | N | 0.205 | neutral | None | None | None | None | N |
| V/K | 0.8684 | likely_pathogenic | 0.8981 | pathogenic | -1.075 | Destabilizing | 0.993 | D | 0.85 | deleterious | None | None | None | None | N |
| V/L | 0.5752 | likely_pathogenic | 0.5965 | pathogenic | -0.679 | Destabilizing | 0.76 | D | 0.482 | neutral | N | 0.507854486 | None | None | N |
| V/M | 0.4015 | ambiguous | 0.4245 | ambiguous | -0.457 | Destabilizing | 0.982 | D | 0.71 | prob.delet. | N | 0.509198198 | None | None | N |
| V/N | 0.8529 | likely_pathogenic | 0.8665 | pathogenic | -0.77 | Destabilizing | 0.998 | D | 0.866 | deleterious | None | None | None | None | N |
| V/P | 0.9182 | likely_pathogenic | 0.9309 | pathogenic | -0.88 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Q | 0.8666 | likely_pathogenic | 0.8869 | pathogenic | -0.967 | Destabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
| V/R | 0.85 | likely_pathogenic | 0.8832 | pathogenic | -0.541 | Destabilizing | 0.998 | D | 0.868 | deleterious | None | None | None | None | N |
| V/S | 0.6814 | likely_pathogenic | 0.6865 | pathogenic | -1.277 | Destabilizing | 0.993 | D | 0.834 | deleterious | None | None | None | None | N |
| V/T | 0.4901 | ambiguous | 0.4827 | ambiguous | -1.187 | Destabilizing | 0.953 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/W | 0.9801 | likely_pathogenic | 0.9839 | pathogenic | -1.334 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.9346 | likely_pathogenic | 0.9487 | pathogenic | -1.059 | Destabilizing | 0.998 | D | 0.763 | 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.