Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14483 | 43672;43673;43674 | chr2:178632559;178632558;178632557 | chr2:179497286;179497285;179497284 |
| N2AB | 12842 | 38749;38750;38751 | chr2:178632559;178632558;178632557 | chr2:179497286;179497285;179497284 |
| N2A | 11915 | 35968;35969;35970 | chr2:178632559;178632558;178632557 | chr2:179497286;179497285;179497284 |
| N2B | 5418 | 16477;16478;16479 | chr2:178632559;178632558;178632557 | chr2:179497286;179497285;179497284 |
| Novex-1 | 5543 | 16852;16853;16854 | chr2:178632559;178632558;178632557 | chr2:179497286;179497285;179497284 |
| Novex-2 | 5610 | 17053;17054;17055 | chr2:178632559;178632558;178632557 | chr2:179497286;179497285;179497284 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs765321685  |
-0.09 | 1.0 | D | 0.588 | 0.588 | 0.39843156188 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| D/E | rs765321685 |
-0.09 | 1.0 | D | 0.588 | 0.588 | 0.39843156188 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/E | rs765321685 |
-0.09 | 1.0 | D | 0.588 | 0.588 | 0.39843156188 | gnomAD-4.0.0 | 8.97284E-06 | None | None | None | None | I | None | 0 | 1.69578E-05 | None | 0 | 0 | None | 0 | 0 | 1.43658E-05 | 0 | 0 |
| D/H | rs750442099 |
-0.213 | 1.0 | D | 0.689 | 0.516 | 0.620859307327 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 8.92E-06 | 0 |
| D/H | rs750442099 |
-0.213 | 1.0 | D | 0.689 | 0.516 | 0.620859307327 | gnomAD-4.0.0 | 3.18471E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.76563E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4402 | ambiguous | 0.4506 | ambiguous | -0.101 | Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.545261551 | None | None | I |
| D/C | 0.9021 | likely_pathogenic | 0.8983 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | I |
| D/E | 0.3217 | likely_benign | 0.3386 | benign | -0.217 | Destabilizing | 1.0 | D | 0.588 | neutral | D | 0.547713957 | None | None | I |
| D/F | 0.8489 | likely_pathogenic | 0.8384 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| D/G | 0.1759 | likely_benign | 0.1863 | benign | -0.243 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.514264761 | None | None | I |
| D/H | 0.603 | likely_pathogenic | 0.6061 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.624442107 | None | None | I |
| D/I | 0.7724 | likely_pathogenic | 0.7522 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| D/K | 0.6585 | likely_pathogenic | 0.641 | pathogenic | 0.282 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| D/L | 0.7507 | likely_pathogenic | 0.7399 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| D/M | 0.8866 | likely_pathogenic | 0.8767 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| D/N | 0.1365 | likely_benign | 0.1448 | benign | 0.188 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.483827343 | None | None | I |
| D/P | 0.9478 | likely_pathogenic | 0.9386 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| D/Q | 0.6536 | likely_pathogenic | 0.6534 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| D/R | 0.7001 | likely_pathogenic | 0.6939 | pathogenic | 0.504 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| D/S | 0.2655 | likely_benign | 0.2824 | benign | 0.037 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| D/T | 0.5738 | likely_pathogenic | 0.5621 | ambiguous | 0.14 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | I |
| D/V | 0.5733 | likely_pathogenic | 0.5615 | ambiguous | 0.128 | Stabilizing | 1.0 | D | 0.616 | neutral | D | 0.623244 | None | None | I |
| D/W | 0.9694 | likely_pathogenic | 0.9639 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| D/Y | 0.4557 | ambiguous | 0.4473 | ambiguous | 0.021 | Stabilizing | 1.0 | D | 0.663 | neutral | D | 0.663532551 | 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.