Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7989 | 24190;24191;24192 | chr2:178719425;178719424;178719423 | chr2:179584152;179584151;179584150 |
| N2AB | 7672 | 23239;23240;23241 | chr2:178719425;178719424;178719423 | chr2:179584152;179584151;179584150 |
| N2A | 6745 | 20458;20459;20460 | chr2:178719425;178719424;178719423 | chr2:179584152;179584151;179584150 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs201653851  |
-0.171 | 1.0 | D | 0.595 | 0.493 | None | gnomAD-2.1.1 | 1.35735E-04 | None | None | None | None | N | None | 2.48098E-04 | 0 | None | 0 | 9.7366E-04 | None | 3.27E-05 | None | 0 | 9.38E-05 | 0 |
| R/C | rs201653851 |
-0.171 | 1.0 | D | 0.595 | 0.493 | None | gnomAD-3.1.2 | 1.7759E-04 | None | None | None | None | N | None | 1.93237E-04 | 0 | 0 | 0 | 9.65624E-04 | None | 0 | 0 | 2.05888E-04 | 0 | 0 |
| R/C | rs201653851 |
-0.171 | 1.0 | D | 0.595 | 0.493 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/C | rs201653851 |
-0.171 | 1.0 | D | 0.595 | 0.493 | None | gnomAD-4.0.0 | 1.7174E-04 | None | None | None | None | N | None | 1.73454E-04 | 0 | None | 0 | 7.13426E-04 | None | 0 | 0 | 1.75556E-04 | 7.68927E-05 | 2.88184E-04 |
| R/H | rs898421060 |
-0.987 | 0.999 | N | 0.51 | 0.393 | 0.366659145958 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/H | rs898421060 |
-0.987 | 0.999 | N | 0.51 | 0.393 | 0.366659145958 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs898421060 |
-0.987 | 0.999 | N | 0.51 | 0.393 | 0.366659145958 | gnomAD-4.0.0 | 8.06102E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32948E-06 | 1.09861E-05 | 1.60164E-05 |
| R/P | rs898421060 |
0.161 | 0.999 | N | 0.573 | 0.427 | 0.598196723881 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| R/P | rs898421060 |
0.161 | 0.999 | N | 0.573 | 0.427 | 0.598196723881 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/P | rs898421060 |
0.161 | 0.999 | N | 0.573 | 0.427 | 0.598196723881 | gnomAD-4.0.0 | 6.578E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47072E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5164 | ambiguous | 0.6278 | pathogenic | -0.106 | Destabilizing | 0.97 | D | 0.539 | neutral | None | None | None | None | N |
| R/C | 0.2057 | likely_benign | 0.2807 | benign | -0.265 | Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.527487608 | None | None | N |
| R/D | 0.758 | likely_pathogenic | 0.8527 | pathogenic | -0.011 | Destabilizing | 0.996 | D | 0.49 | neutral | None | None | None | None | N |
| R/E | 0.385 | ambiguous | 0.4811 | ambiguous | 0.087 | Stabilizing | 0.942 | D | 0.503 | neutral | None | None | None | None | N |
| R/F | 0.651 | likely_pathogenic | 0.7863 | pathogenic | -0.126 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| R/G | 0.2857 | likely_benign | 0.3945 | ambiguous | -0.358 | Destabilizing | 0.992 | D | 0.523 | neutral | N | 0.496506111 | None | None | N |
| R/H | 0.1216 | likely_benign | 0.1486 | benign | -0.78 | Destabilizing | 0.999 | D | 0.51 | neutral | N | 0.492747129 | None | None | N |
| R/I | 0.4083 | ambiguous | 0.5347 | ambiguous | 0.54 | Stabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| R/K | 0.1063 | likely_benign | 0.1171 | benign | -0.188 | Destabilizing | 0.155 | N | 0.099 | neutral | None | None | None | None | N |
| R/L | 0.3386 | likely_benign | 0.4553 | ambiguous | 0.54 | Stabilizing | 0.992 | D | 0.523 | neutral | N | 0.50425679 | None | None | N |
| R/M | 0.3487 | ambiguous | 0.473 | ambiguous | 0.009 | Stabilizing | 1.0 | D | 0.562 | neutral | None | None | None | None | N |
| R/N | 0.6686 | likely_pathogenic | 0.7714 | pathogenic | 0.064 | Stabilizing | 0.985 | D | 0.497 | neutral | None | None | None | None | N |
| R/P | 0.8534 | likely_pathogenic | 0.9148 | pathogenic | 0.347 | Stabilizing | 0.999 | D | 0.573 | neutral | N | 0.515624324 | None | None | N |
| R/Q | 0.0986 | likely_benign | 0.114 | benign | -0.012 | Destabilizing | 0.746 | D | 0.174 | neutral | None | None | None | None | N |
| R/S | 0.542 | ambiguous | 0.658 | pathogenic | -0.379 | Destabilizing | 0.984 | D | 0.512 | neutral | N | 0.505718227 | None | None | N |
| R/T | 0.3263 | likely_benign | 0.4264 | ambiguous | -0.124 | Destabilizing | 0.985 | D | 0.534 | neutral | None | None | None | None | N |
| R/V | 0.4767 | ambiguous | 0.608 | pathogenic | 0.347 | Stabilizing | 0.996 | D | 0.532 | neutral | None | None | None | None | N |
| R/W | 0.1683 | likely_benign | 0.2556 | benign | -0.062 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| R/Y | 0.4403 | ambiguous | 0.5889 | pathogenic | 0.311 | Stabilizing | 0.999 | D | 0.567 | 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.