Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16852 | 50779;50780;50781 | chr2:178611675;178611674;178611673 | chr2:179476402;179476401;179476400 |
| N2AB | 15211 | 45856;45857;45858 | chr2:178611675;178611674;178611673 | chr2:179476402;179476401;179476400 |
| N2A | 14284 | 43075;43076;43077 | chr2:178611675;178611674;178611673 | chr2:179476402;179476401;179476400 |
| N2B | 7787 | 23584;23585;23586 | chr2:178611675;178611674;178611673 | chr2:179476402;179476401;179476400 |
| Novex-1 | 7912 | 23959;23960;23961 | chr2:178611675;178611674;178611673 | chr2:179476402;179476401;179476400 |
| Novex-2 | 7979 | 24160;24161;24162 | chr2:178611675;178611674;178611673 | chr2:179476402;179476401;179476400 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 0.908 | D | 0.654 | 0.178 | 0.452640719197 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| P/S | rs752660748  |
-0.334 | 0.993 | D | 0.575 | 0.277 | 0.299427821978 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| P/S | rs752660748 |
-0.334 | 0.993 | D | 0.575 | 0.277 | 0.299427821978 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs752660748 |
-0.334 | 0.993 | D | 0.575 | 0.277 | 0.299427821978 | gnomAD-4.0.0 | 2.97685E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.98562E-05 | 0 | 1.60287E-05 |
| P/T | rs752660748 |
None | 0.986 | D | 0.607 | 0.296 | 0.3349148499 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs752660748 |
None | 0.986 | D | 0.607 | 0.296 | 0.3349148499 | gnomAD-4.0.0 | 6.57981E-06 | None | None | None | None | I | None | 2.41394E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1002 | likely_benign | 0.1008 | benign | -0.567 | Destabilizing | 0.908 | D | 0.489 | neutral | D | 0.562238531 | None | None | I |
| P/C | 0.6281 | likely_pathogenic | 0.6268 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/D | 0.8721 | likely_pathogenic | 0.9038 | pathogenic | -0.027 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | I |
| P/E | 0.5643 | likely_pathogenic | 0.6186 | pathogenic | -0.137 | Destabilizing | 0.995 | D | 0.607 | neutral | None | None | None | None | I |
| P/F | 0.708 | likely_pathogenic | 0.7284 | pathogenic | -0.849 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | I |
| P/G | 0.6709 | likely_pathogenic | 0.7125 | pathogenic | -0.699 | Destabilizing | 0.995 | D | 0.578 | neutral | None | None | None | None | I |
| P/H | 0.402 | ambiguous | 0.4593 | ambiguous | -0.297 | Destabilizing | 0.999 | D | 0.786 | deleterious | D | 0.64124812 | None | None | I |
| P/I | 0.2875 | likely_benign | 0.2335 | benign | -0.369 | Destabilizing | 0.929 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/K | 0.4403 | ambiguous | 0.5365 | ambiguous | -0.236 | Destabilizing | 0.995 | D | 0.62 | neutral | None | None | None | None | I |
| P/L | 0.1648 | likely_benign | 0.1653 | benign | -0.369 | Destabilizing | 0.908 | D | 0.654 | prob.neutral | D | 0.522053401 | None | None | I |
| P/M | 0.4235 | ambiguous | 0.4072 | ambiguous | -0.275 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | I |
| P/N | 0.7313 | likely_pathogenic | 0.7472 | pathogenic | 0.005 | Stabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | I |
| P/Q | 0.277 | likely_benign | 0.3232 | benign | -0.262 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | I |
| P/R | 0.2972 | likely_benign | 0.3823 | ambiguous | 0.224 | Stabilizing | 0.998 | D | 0.791 | deleterious | D | 0.546188887 | None | None | I |
| P/S | 0.2526 | likely_benign | 0.2743 | benign | -0.443 | Destabilizing | 0.993 | D | 0.575 | neutral | D | 0.617617968 | None | None | I |
| P/T | 0.1915 | likely_benign | 0.1766 | benign | -0.45 | Destabilizing | 0.986 | D | 0.607 | neutral | D | 0.677169118 | None | None | I |
| P/V | 0.2036 | likely_benign | 0.1667 | benign | -0.4 | Destabilizing | 0.075 | N | 0.363 | neutral | None | None | None | None | I |
| P/W | 0.9024 | likely_pathogenic | 0.9265 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| P/Y | 0.7159 | likely_pathogenic | 0.7609 | pathogenic | -0.56 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | 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.