Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3084 | 9475;9476;9477 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
| N2AB | 3084 | 9475;9476;9477 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
| N2A | 3084 | 9475;9476;9477 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
| N2B | 3038 | 9337;9338;9339 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
| Novex-1 | 3038 | 9337;9338;9339 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
| Novex-2 | 3038 | 9337;9338;9339 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
| Novex-3 | 3084 | 9475;9476;9477 | chr2:178768069;178768068;178768067 | chr2:179632796;179632795;179632794 |
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 | rs1033996370  |
None | 1.0 | N | 0.689 | 0.559 | 0.389283895039 | gnomAD-4.0.0 | 6.84079E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99294E-07 | 0 | 0 |
| P/R | rs1033996370 |
-0.216 | 1.0 | N | 0.723 | 0.599 | 0.259272394797 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs1033996370 |
-0.216 | 1.0 | N | 0.723 | 0.599 | 0.259272394797 | gnomAD-4.0.0 | 2.47832E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38977E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.732 | 0.517 | 0.12205267543 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79858E-06 | 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 | 0.4018 | ambiguous | 0.335 | benign | -1.235 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.424346676 | None | None | N |
| P/C | 0.9795 | likely_pathogenic | 0.9757 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| P/D | 0.9489 | likely_pathogenic | 0.9259 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/E | 0.8665 | likely_pathogenic | 0.7934 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/F | 0.9877 | likely_pathogenic | 0.9812 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/G | 0.8976 | likely_pathogenic | 0.869 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| P/H | 0.8818 | likely_pathogenic | 0.8365 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.509326103 | None | None | N |
| P/I | 0.9499 | likely_pathogenic | 0.9336 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/K | 0.9059 | likely_pathogenic | 0.8675 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/L | 0.7365 | likely_pathogenic | 0.6343 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.488014973 | None | None | N |
| P/M | 0.9121 | likely_pathogenic | 0.8844 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| P/N | 0.9211 | likely_pathogenic | 0.9006 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/Q | 0.7646 | likely_pathogenic | 0.695 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/R | 0.8364 | likely_pathogenic | 0.7588 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.497490569 | None | None | N |
| P/S | 0.7168 | likely_pathogenic | 0.649 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.45419995 | None | None | N |
| P/T | 0.6959 | likely_pathogenic | 0.6184 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.472036853 | None | None | N |
| P/V | 0.884 | likely_pathogenic | 0.8494 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| P/W | 0.9908 | likely_pathogenic | 0.9849 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9751 | likely_pathogenic | 0.963 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.741 | deleterious | 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.