Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5665 | 17218;17219;17220 | chr2:178731882;178731881;178731880 | chr2:179596609;179596608;179596607 |
| N2AB | 5348 | 16267;16268;16269 | chr2:178731882;178731881;178731880 | chr2:179596609;179596608;179596607 |
| N2A | 4421 | 13486;13487;13488 | chr2:178731882;178731881;178731880 | chr2:179596609;179596608;179596607 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs771714891  |
0.122 | 1.0 | N | 0.703 | 0.429 | 0.803572451131 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/L | rs771714891 |
0.122 | 1.0 | N | 0.703 | 0.429 | 0.803572451131 | gnomAD-4.0.0 | 1.36847E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31879E-05 | 0 |
| P/S | rs775278050 |
-0.309 | 1.0 | N | 0.698 | 0.408 | 0.457377140028 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| P/S | rs775278050 |
-0.309 | 1.0 | N | 0.698 | 0.408 | 0.457377140028 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| P/S | rs775278050 |
-0.309 | 1.0 | N | 0.698 | 0.408 | 0.457377140028 | gnomAD-4.0.0 | 7.68705E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 8.04052E-05 | 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 | 0.1913 | likely_benign | 0.2722 | benign | -0.612 | Destabilizing | 1.0 | D | 0.663 | neutral | D | 0.529267091 | None | None | I |
| P/C | 0.7991 | likely_pathogenic | 0.8883 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| P/D | 0.6769 | likely_pathogenic | 0.777 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| P/E | 0.5519 | ambiguous | 0.6673 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| P/F | 0.7964 | likely_pathogenic | 0.8948 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| P/G | 0.629 | likely_pathogenic | 0.7178 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| P/H | 0.4609 | ambiguous | 0.6108 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.507697832 | None | None | I |
| P/I | 0.5742 | likely_pathogenic | 0.7377 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/K | 0.644 | likely_pathogenic | 0.7572 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| P/L | 0.2833 | likely_benign | 0.4195 | ambiguous | -0.306 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.491960207 | None | None | I |
| P/M | 0.6044 | likely_pathogenic | 0.7511 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| P/N | 0.6047 | likely_pathogenic | 0.7288 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| P/Q | 0.4045 | ambiguous | 0.5387 | ambiguous | -0.588 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| P/R | 0.4515 | ambiguous | 0.5731 | pathogenic | -0.115 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.532384754 | None | None | I |
| P/S | 0.3057 | likely_benign | 0.4284 | ambiguous | -0.699 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.484780957 | None | None | I |
| P/T | 0.2632 | likely_benign | 0.3772 | ambiguous | -0.679 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.523629197 | None | None | I |
| P/V | 0.4237 | ambiguous | 0.5742 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| P/W | 0.9199 | likely_pathogenic | 0.9561 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| P/Y | 0.7512 | likely_pathogenic | 0.8612 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.647 | neutral | 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.