Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26823 | 80692;80693;80694 | chr2:178565665;178565664;178565663 | chr2:179430392;179430391;179430390 |
| N2AB | 25182 | 75769;75770;75771 | chr2:178565665;178565664;178565663 | chr2:179430392;179430391;179430390 |
| N2A | 24255 | 72988;72989;72990 | chr2:178565665;178565664;178565663 | chr2:179430392;179430391;179430390 |
| N2B | 17758 | 53497;53498;53499 | chr2:178565665;178565664;178565663 | chr2:179430392;179430391;179430390 |
| Novex-1 | 17883 | 53872;53873;53874 | chr2:178565665;178565664;178565663 | chr2:179430392;179430391;179430390 |
| Novex-2 | 17950 | 54073;54074;54075 | chr2:178565665;178565664;178565663 | chr2:179430392;179430391;179430390 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs114071241  |
-0.085 | 1.0 | N | 0.512 | 0.511 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.93849E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs114071241 |
-0.085 | 1.0 | N | 0.512 | 0.511 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs114071241 |
-0.085 | 1.0 | N | 0.512 | 0.511 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/A | rs114071241 |
-0.085 | 1.0 | N | 0.512 | 0.511 | None | gnomAD-4.0.0 | 6.19748E-06 | None | None | None | None | N | None | 1.20016E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47716E-07 | 0 | 0 |
| G/E | None | None | 1.0 | N | 0.644 | 0.558 | 0.422762650823 | gnomAD-4.0.0 | 6.84268E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99559E-07 | 0 | 0 |
| G/R | None | None | 1.0 | N | 0.664 | 0.6 | 0.52674250279 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2593 | likely_benign | 0.2153 | benign | -0.244 | Destabilizing | 1.0 | D | 0.512 | neutral | N | 0.482337151 | None | None | N |
| G/C | 0.3959 | ambiguous | 0.3405 | ambiguous | -0.881 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/D | 0.1526 | likely_benign | 0.1218 | benign | -0.836 | Destabilizing | 1.0 | D | 0.524 | neutral | None | None | None | None | N |
| G/E | 0.2534 | likely_benign | 0.1777 | benign | -1.0 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.473561285 | None | None | N |
| G/F | 0.728 | likely_pathogenic | 0.652 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/H | 0.5138 | ambiguous | 0.4362 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| G/I | 0.4873 | ambiguous | 0.3895 | ambiguous | -0.489 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/K | 0.6638 | likely_pathogenic | 0.5545 | ambiguous | -0.824 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| G/L | 0.6464 | likely_pathogenic | 0.5639 | ambiguous | -0.489 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/M | 0.6228 | likely_pathogenic | 0.5362 | ambiguous | -0.624 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/N | 0.2031 | likely_benign | 0.187 | benign | -0.434 | Destabilizing | 1.0 | D | 0.541 | neutral | None | None | None | None | N |
| G/P | 0.9267 | likely_pathogenic | 0.9045 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/Q | 0.4845 | ambiguous | 0.3821 | ambiguous | -0.732 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/R | 0.6235 | likely_pathogenic | 0.499 | ambiguous | -0.356 | Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.485184306 | None | None | N |
| G/S | 0.1502 | likely_benign | 0.1332 | benign | -0.518 | Destabilizing | 1.0 | D | 0.546 | neutral | None | None | None | None | N |
| G/T | 0.2739 | likely_benign | 0.228 | benign | -0.628 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| G/V | 0.3702 | ambiguous | 0.2864 | benign | -0.38 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.493199704 | None | None | N |
| G/W | 0.6082 | likely_pathogenic | 0.5086 | ambiguous | -1.177 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/Y | 0.555 | ambiguous | 0.4554 | ambiguous | -0.86 | Destabilizing | 1.0 | D | 0.692 | 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.