Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20794 | 62605;62606;62607 | chr2:178589345;178589344;178589343 | chr2:179454072;179454071;179454070 |
| N2AB | 19153 | 57682;57683;57684 | chr2:178589345;178589344;178589343 | chr2:179454072;179454071;179454070 |
| N2A | 18226 | 54901;54902;54903 | chr2:178589345;178589344;178589343 | chr2:179454072;179454071;179454070 |
| N2B | 11729 | 35410;35411;35412 | chr2:178589345;178589344;178589343 | chr2:179454072;179454071;179454070 |
| Novex-1 | 11854 | 35785;35786;35787 | chr2:178589345;178589344;178589343 | chr2:179454072;179454071;179454070 |
| Novex-2 | 11921 | 35986;35987;35988 | chr2:178589345;178589344;178589343 | chr2:179454072;179454071;179454070 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1339109963  |
-0.433 | 1.0 | N | 0.603 | 0.533 | 0.51469891142 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/G | rs1339109963 |
-0.433 | 1.0 | N | 0.603 | 0.533 | 0.51469891142 | gnomAD-4.0.0 | 1.59233E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
| R/T | rs765092290 |
0.09 | 1.0 | N | 0.672 | 0.378 | 0.42538462244 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 8.72E-05 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 0 | 0 |
| R/T | rs765092290 |
0.09 | 1.0 | N | 0.672 | 0.378 | 0.42538462244 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| R/T | rs765092290 |
0.09 | 1.0 | N | 0.672 | 0.378 | 0.42538462244 | gnomAD-4.0.0 | 8.97399E-06 | None | None | None | None | N | None | 0 | 5.08906E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 5.36337E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4983 | ambiguous | 0.5696 | pathogenic | -0.067 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| R/C | 0.2611 | likely_benign | 0.3657 | ambiguous | -0.211 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| R/D | 0.808 | likely_pathogenic | 0.8677 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| R/E | 0.5146 | ambiguous | 0.6013 | pathogenic | 0.1 | Stabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| R/F | 0.6054 | likely_pathogenic | 0.6846 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| R/G | 0.4171 | ambiguous | 0.4673 | ambiguous | -0.313 | Destabilizing | 1.0 | D | 0.603 | neutral | N | 0.470682934 | None | None | N |
| R/H | 0.1278 | likely_benign | 0.1575 | benign | -0.789 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/I | 0.3708 | ambiguous | 0.4566 | ambiguous | 0.557 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.456521558 | None | None | N |
| R/K | 0.1059 | likely_benign | 0.1254 | benign | -0.115 | Destabilizing | 0.997 | D | 0.467 | neutral | N | 0.392720796 | None | None | N |
| R/L | 0.3429 | ambiguous | 0.4004 | ambiguous | 0.557 | Stabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| R/M | 0.3633 | ambiguous | 0.4285 | ambiguous | 0.03 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/N | 0.6607 | likely_pathogenic | 0.7396 | pathogenic | 0.128 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| R/P | 0.9527 | likely_pathogenic | 0.9553 | pathogenic | 0.371 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| R/Q | 0.1321 | likely_benign | 0.1556 | benign | 0.054 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/S | 0.5453 | ambiguous | 0.6259 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.417077735 | None | None | N |
| R/T | 0.2878 | likely_benign | 0.3484 | ambiguous | -0.046 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.391027285 | None | None | N |
| R/V | 0.4324 | ambiguous | 0.5298 | ambiguous | 0.371 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| R/W | 0.2699 | likely_benign | 0.2903 | benign | -0.086 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/Y | 0.4878 | ambiguous | 0.5732 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | 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.