Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7010 | 21253;21254;21255 | chr2:178724347;178724346;178724345 | chr2:179589074;179589073;179589072 |
| N2AB | 6693 | 20302;20303;20304 | chr2:178724347;178724346;178724345 | chr2:179589074;179589073;179589072 |
| N2A | 5766 | 17521;17522;17523 | chr2:178724347;178724346;178724345 | chr2:179589074;179589073;179589072 |
| 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 | rs2078969051  |
None | None | N | 0.157 | 0.167 | 0.412064437402 | gnomAD-4.0.0 | 1.59182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| V/F | None | None | 0.175 | N | 0.652 | 0.278 | 0.540518506614 | gnomAD-4.0.0 | 6.84316E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99582E-07 | 0 | 0 |
| V/I | rs564660466 |
-0.989 | 0.001 | N | 0.243 | 0.065 | 0.183819452728 | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45881E-04 | None | 0 | None | 0 | 2.66E-05 | 0 |
| V/I | rs564660466 |
-0.989 | 0.001 | N | 0.243 | 0.065 | 0.183819452728 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| V/I | rs564660466 |
-0.989 | 0.001 | N | 0.243 | 0.065 | 0.183819452728 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/I | rs564660466 |
-0.989 | 0.001 | N | 0.243 | 0.065 | 0.183819452728 | gnomAD-4.0.0 | 1.23948E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22946E-04 | None | 1.56201E-05 | 0 | 7.6296E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1066 | likely_benign | 0.097 | benign | -1.913 | Destabilizing | None | N | 0.157 | neutral | N | 0.460410012 | None | None | N |
| V/C | 0.7638 | likely_pathogenic | 0.7483 | pathogenic | -2.093 | Highly Destabilizing | 0.667 | D | 0.611 | neutral | None | None | None | None | N |
| V/D | 0.9087 | likely_pathogenic | 0.8993 | pathogenic | -3.054 | Highly Destabilizing | 0.175 | N | 0.623 | neutral | D | 0.524572136 | None | None | N |
| V/E | 0.8716 | likely_pathogenic | 0.8488 | pathogenic | -2.972 | Highly Destabilizing | 0.22 | N | 0.545 | neutral | None | None | None | None | N |
| V/F | 0.6612 | likely_pathogenic | 0.6527 | pathogenic | -1.367 | Destabilizing | 0.175 | N | 0.652 | neutral | N | 0.50323865 | None | None | N |
| V/G | 0.3604 | ambiguous | 0.3436 | ambiguous | -2.27 | Highly Destabilizing | None | N | 0.448 | neutral | N | 0.512962341 | None | None | N |
| V/H | 0.9598 | likely_pathogenic | 0.9523 | pathogenic | -1.658 | Destabilizing | 0.859 | D | 0.647 | neutral | None | None | None | None | N |
| V/I | 0.1263 | likely_benign | 0.1194 | benign | -0.974 | Destabilizing | 0.001 | N | 0.243 | neutral | N | 0.501680631 | None | None | N |
| V/K | 0.922 | likely_pathogenic | 0.9103 | pathogenic | -1.672 | Destabilizing | 0.22 | N | 0.547 | neutral | None | None | None | None | N |
| V/L | 0.4432 | ambiguous | 0.4003 | ambiguous | -0.974 | Destabilizing | 0.007 | N | 0.363 | neutral | N | 0.455892414 | None | None | N |
| V/M | 0.3205 | likely_benign | 0.2816 | benign | -1.189 | Destabilizing | 0.025 | N | 0.369 | neutral | None | None | None | None | N |
| V/N | 0.7531 | likely_pathogenic | 0.7323 | pathogenic | -1.889 | Destabilizing | 0.22 | N | 0.635 | neutral | None | None | None | None | N |
| V/P | 0.7508 | likely_pathogenic | 0.6711 | pathogenic | -1.259 | Destabilizing | 0.364 | N | 0.638 | neutral | None | None | None | None | N |
| V/Q | 0.8702 | likely_pathogenic | 0.8483 | pathogenic | -2.025 | Highly Destabilizing | 0.364 | N | 0.666 | neutral | None | None | None | None | N |
| V/R | 0.8673 | likely_pathogenic | 0.8623 | pathogenic | -1.194 | Destabilizing | 0.22 | N | 0.667 | neutral | None | None | None | None | N |
| V/S | 0.2826 | likely_benign | 0.2607 | benign | -2.349 | Highly Destabilizing | 0.002 | N | 0.447 | neutral | None | None | None | None | N |
| V/T | 0.1573 | likely_benign | 0.1441 | benign | -2.159 | Highly Destabilizing | 0.002 | N | 0.177 | neutral | None | None | None | None | N |
| V/W | 0.9872 | likely_pathogenic | 0.9848 | pathogenic | -1.643 | Destabilizing | 0.958 | D | 0.62 | neutral | None | None | None | None | N |
| V/Y | 0.9561 | likely_pathogenic | 0.9525 | pathogenic | -1.34 | Destabilizing | 0.667 | D | 0.653 | 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.