Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6280 | 19063;19064;19065 | chr2:178729318;178729317;178729316 | chr2:179594045;179594044;179594043 |
| N2AB | 5963 | 18112;18113;18114 | chr2:178729318;178729317;178729316 | chr2:179594045;179594044;179594043 |
| N2A | 5036 | 15331;15332;15333 | chr2:178729318;178729317;178729316 | chr2:179594045;179594044;179594043 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs768034029  |
-0.282 | 0.98 | N | 0.651 | 0.494 | 0.671445999895 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| C/S | rs768034029 |
-0.282 | 0.98 | N | 0.651 | 0.494 | 0.671445999895 | gnomAD-4.0.0 | 1.59696E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87082E-06 | 0 | 0 |
| C/Y | rs768034029 |
None | 0.999 | N | 0.787 | 0.333 | 0.772397396667 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs768034029 |
None | 0.999 | N | 0.787 | 0.333 | 0.772397396667 | gnomAD-4.0.0 | 6.57298E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2646 | likely_benign | 0.285 | benign | -1.371 | Destabilizing | 0.982 | D | 0.54 | neutral | None | None | None | None | I |
| C/D | 0.5714 | likely_pathogenic | 0.5231 | ambiguous | 0.497 | Stabilizing | 0.171 | N | 0.543 | neutral | None | None | None | None | I |
| C/E | 0.7847 | likely_pathogenic | 0.7481 | pathogenic | 0.567 | Stabilizing | 0.991 | D | 0.78 | deleterious | None | None | None | None | I |
| C/F | 0.2748 | likely_benign | 0.2762 | benign | -0.954 | Destabilizing | 0.999 | D | 0.792 | deleterious | N | 0.485692783 | None | None | I |
| C/G | 0.1874 | likely_benign | 0.1906 | benign | -1.637 | Destabilizing | 0.99 | D | 0.784 | deleterious | D | 0.523071837 | None | None | I |
| C/H | 0.5138 | ambiguous | 0.4856 | ambiguous | -1.695 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| C/I | 0.3953 | ambiguous | 0.4228 | ambiguous | -0.715 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| C/K | 0.7592 | likely_pathogenic | 0.7324 | pathogenic | -0.261 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | I |
| C/L | 0.4693 | ambiguous | 0.4687 | ambiguous | -0.715 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | I |
| C/M | 0.6539 | likely_pathogenic | 0.6518 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| C/N | 0.477 | ambiguous | 0.4768 | ambiguous | -0.176 | Destabilizing | 0.996 | D | 0.807 | deleterious | None | None | None | None | I |
| C/P | 0.9812 | likely_pathogenic | 0.9851 | pathogenic | -0.907 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | I |
| C/Q | 0.5855 | likely_pathogenic | 0.546 | ambiguous | -0.111 | Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | I |
| C/R | 0.373 | ambiguous | 0.3482 | ambiguous | -0.239 | Destabilizing | 0.997 | D | 0.831 | deleterious | N | 0.494999801 | None | None | I |
| C/S | 0.1779 | likely_benign | 0.1817 | benign | -0.753 | Destabilizing | 0.98 | D | 0.651 | neutral | N | 0.437279649 | None | None | I |
| C/T | 0.3105 | likely_benign | 0.3181 | benign | -0.496 | Destabilizing | 0.993 | D | 0.658 | neutral | None | None | None | None | I |
| C/V | 0.3189 | likely_benign | 0.3462 | ambiguous | -0.907 | Destabilizing | 0.998 | D | 0.654 | neutral | None | None | None | None | I |
| C/W | 0.641 | likely_pathogenic | 0.6287 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.497302578 | None | None | I |
| C/Y | 0.3916 | ambiguous | 0.3784 | ambiguous | -0.835 | Destabilizing | 0.999 | D | 0.787 | deleterious | N | 0.496795599 | None | None | I |
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.