Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20581 | 61966;61967;61968 | chr2:178589984;178589983;178589982 | chr2:179454711;179454710;179454709 |
| N2AB | 18940 | 57043;57044;57045 | chr2:178589984;178589983;178589982 | chr2:179454711;179454710;179454709 |
| N2A | 18013 | 54262;54263;54264 | chr2:178589984;178589983;178589982 | chr2:179454711;179454710;179454709 |
| N2B | 11516 | 34771;34772;34773 | chr2:178589984;178589983;178589982 | chr2:179454711;179454710;179454709 |
| Novex-1 | 11641 | 35146;35147;35148 | chr2:178589984;178589983;178589982 | chr2:179454711;179454710;179454709 |
| Novex-2 | 11708 | 35347;35348;35349 | chr2:178589984;178589983;178589982 | chr2:179454711;179454710;179454709 |
| 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 | rs727504849  |
-1.216 | 0.099 | N | 0.329 | 0.135 | 0.464784125046 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs727504849 |
-1.216 | 0.099 | N | 0.329 | 0.135 | 0.464784125046 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs727504849 |
-1.216 | 0.099 | N | 0.329 | 0.135 | 0.464784125046 | gnomAD-4.0.0 | 2.47975E-06 | None | None | None | None | N | None | 5.3416E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs727504849 |
None | 0.967 | N | 0.619 | 0.446 | 0.868624395305 | gnomAD-4.0.0 | 2.05339E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69899E-06 | 0 | 0 |
| V/L | rs1559576334 |
-0.621 | 0.369 | N | 0.373 | 0.168 | 0.343101102393 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1559576334 |
-0.621 | 0.369 | N | 0.373 | 0.168 | 0.343101102393 | gnomAD-4.0.0 | 1.59266E-06 | None | None | None | None | N | None | 5.66187E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.5119 | ambiguous | 0.3836 | ambiguous | -1.193 | Destabilizing | 0.099 | N | 0.329 | neutral | N | 0.512230407 | None | None | N |
| V/C | 0.8849 | likely_pathogenic | 0.8472 | pathogenic | -1.116 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| V/D | 0.9634 | likely_pathogenic | 0.9317 | pathogenic | -0.826 | Destabilizing | 0.987 | D | 0.714 | prob.delet. | None | None | None | None | N |
| V/E | 0.9309 | likely_pathogenic | 0.8821 | pathogenic | -0.873 | Destabilizing | 0.983 | D | 0.625 | neutral | N | 0.498212907 | None | None | N |
| V/F | 0.7417 | likely_pathogenic | 0.6284 | pathogenic | -1.259 | Destabilizing | 0.975 | D | 0.58 | neutral | None | None | None | None | N |
| V/G | 0.7456 | likely_pathogenic | 0.6579 | pathogenic | -1.432 | Destabilizing | 0.967 | D | 0.619 | neutral | N | 0.511090149 | None | None | N |
| V/H | 0.9763 | likely_pathogenic | 0.9551 | pathogenic | -1.026 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| V/I | 0.099 | likely_benign | 0.1024 | benign | -0.664 | Destabilizing | 0.025 | N | 0.3 | neutral | N | 0.44192496 | None | None | N |
| V/K | 0.9254 | likely_pathogenic | 0.8729 | pathogenic | -0.823 | Destabilizing | 0.987 | D | 0.629 | neutral | None | None | None | None | N |
| V/L | 0.6482 | likely_pathogenic | 0.5479 | ambiguous | -0.664 | Destabilizing | 0.369 | N | 0.373 | neutral | N | 0.501840055 | None | None | N |
| V/M | 0.5265 | ambiguous | 0.4443 | ambiguous | -0.52 | Destabilizing | 0.975 | D | 0.501 | neutral | None | None | None | None | N |
| V/N | 0.8877 | likely_pathogenic | 0.8158 | pathogenic | -0.618 | Destabilizing | 0.996 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/P | 0.7321 | likely_pathogenic | 0.6783 | pathogenic | -0.806 | Destabilizing | 0.987 | D | 0.641 | neutral | None | None | None | None | N |
| V/Q | 0.9139 | likely_pathogenic | 0.846 | pathogenic | -0.856 | Destabilizing | 0.996 | D | 0.65 | neutral | None | None | None | None | N |
| V/R | 0.9068 | likely_pathogenic | 0.8353 | pathogenic | -0.36 | Destabilizing | 0.987 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/S | 0.7549 | likely_pathogenic | 0.6325 | pathogenic | -1.166 | Destabilizing | 0.95 | D | 0.537 | neutral | None | None | None | None | N |
| V/T | 0.4855 | ambiguous | 0.3684 | ambiguous | -1.102 | Destabilizing | 0.916 | D | 0.443 | neutral | None | None | None | None | N |
| V/W | 0.9902 | likely_pathogenic | 0.9846 | pathogenic | -1.349 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9553 | likely_pathogenic | 0.9211 | pathogenic | -1.021 | Destabilizing | 0.987 | D | 0.589 | 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.