Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8087 | 24484;24485;24486 | chr2:178718941;178718940;178718939 | chr2:179583668;179583667;179583666 |
| N2AB | 7770 | 23533;23534;23535 | chr2:178718941;178718940;178718939 | chr2:179583668;179583667;179583666 |
| N2A | 6843 | 20752;20753;20754 | chr2:178718941;178718940;178718939 | chr2:179583668;179583667;179583666 |
| 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 | rs764391944  |
-1.683 | None | N | 0.107 | 0.304 | 0.292423486923 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.06E-06 | 0 |
| V/A | rs764391944 |
-1.683 | None | N | 0.107 | 0.304 | 0.292423486923 | gnomAD-4.0.0 | 1.59778E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86791E-06 | 0 | 0 |
| V/E | None | None | 0.096 | N | 0.511 | 0.421 | 0.5353919603 | 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/E | None | None | 0.096 | N | 0.511 | 0.421 | 0.5353919603 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| V/L | None | None | None | N | 0.121 | 0.271 | 0.1749357433 | gnomAD-4.0.0 | 6.85513E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00497E-07 | 0 | 0 |
| V/M | None | None | 0.007 | N | 0.287 | 0.235 | 0.228597637076 | gnomAD-4.0.0 | 6.85513E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00497E-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 | 0.105 | likely_benign | 0.1024 | benign | -1.229 | Destabilizing | None | N | 0.107 | neutral | N | 0.501181986 | None | None | N |
| V/C | 0.6291 | likely_pathogenic | 0.6606 | pathogenic | -1.057 | Destabilizing | 0.883 | D | 0.461 | neutral | None | None | None | None | N |
| V/D | 0.2611 | likely_benign | 0.2648 | benign | -0.656 | Destabilizing | 0.22 | N | 0.609 | neutral | None | None | None | None | N |
| V/E | 0.146 | likely_benign | 0.1579 | benign | -0.624 | Destabilizing | 0.096 | N | 0.511 | neutral | N | 0.500236456 | None | None | N |
| V/F | 0.1263 | likely_benign | 0.1354 | benign | -0.832 | Destabilizing | 0.331 | N | 0.505 | neutral | None | None | None | None | N |
| V/G | 0.1793 | likely_benign | 0.1736 | benign | -1.559 | Destabilizing | 0.096 | N | 0.54 | neutral | D | 0.540991168 | None | None | N |
| V/H | 0.3573 | ambiguous | 0.3843 | ambiguous | -0.921 | Destabilizing | 0.883 | D | 0.558 | neutral | None | None | None | None | N |
| V/I | 0.0728 | likely_benign | 0.0751 | benign | -0.424 | Destabilizing | 0.055 | N | 0.419 | neutral | None | None | None | None | N |
| V/K | 0.138 | likely_benign | 0.1486 | benign | -0.996 | Destabilizing | 0.124 | N | 0.534 | neutral | None | None | None | None | N |
| V/L | 0.1067 | likely_benign | 0.1147 | benign | -0.424 | Destabilizing | None | N | 0.121 | neutral | N | 0.455697626 | None | None | N |
| V/M | 0.0759 | likely_benign | 0.0796 | benign | -0.539 | Destabilizing | 0.007 | N | 0.287 | neutral | N | 0.508686748 | None | None | N |
| V/N | 0.2247 | likely_benign | 0.2351 | benign | -0.916 | Destabilizing | 0.497 | N | 0.587 | neutral | None | None | None | None | N |
| V/P | 0.623 | likely_pathogenic | 0.6199 | pathogenic | -0.657 | Destabilizing | 0.667 | D | 0.56 | neutral | None | None | None | None | N |
| V/Q | 0.1434 | likely_benign | 0.1589 | benign | -0.973 | Destabilizing | 0.004 | N | 0.363 | neutral | None | None | None | None | N |
| V/R | 0.131 | likely_benign | 0.1434 | benign | -0.588 | Destabilizing | 0.331 | N | 0.609 | neutral | None | None | None | None | N |
| V/S | 0.1485 | likely_benign | 0.1506 | benign | -1.506 | Destabilizing | 0.124 | N | 0.509 | neutral | None | None | None | None | N |
| V/T | 0.1115 | likely_benign | 0.1107 | benign | -1.337 | Destabilizing | 0.124 | N | 0.42 | neutral | None | None | None | None | N |
| V/W | 0.5522 | ambiguous | 0.5894 | pathogenic | -0.988 | Destabilizing | 0.958 | D | 0.588 | neutral | None | None | None | None | N |
| V/Y | 0.3851 | ambiguous | 0.4291 | ambiguous | -0.684 | Destabilizing | 0.667 | D | 0.489 | 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.