Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5710 | 17353;17354;17355 | chr2:178731747;178731746;178731745 | chr2:179596474;179596473;179596472 |
| N2AB | 5393 | 16402;16403;16404 | chr2:178731747;178731746;178731745 | chr2:179596474;179596473;179596472 |
| N2A | 4466 | 13621;13622;13623 | chr2:178731747;178731746;178731745 | chr2:179596474;179596473;179596472 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/L | None | None | 0.729 | N | 0.497 | 0.332 | 0.545825192673 | gnomAD-4.0.0 | 6.84264E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99515E-07 | 0 | 0 |
| R/Q | rs200018866  |
-0.933 | 0.529 | N | 0.293 | 0.235 | None | gnomAD-2.1.1 | 6.44E-05 | None | None | None | None | N | None | 3.72147E-04 | 1.13218E-04 | None | 0 | 5.13E-05 | None | 3.27E-05 | None | 0 | 2.35E-05 | 0 |
| R/Q | rs200018866 |
-0.933 | 0.529 | N | 0.293 | 0.235 | None | gnomAD-3.1.2 | 1.97244E-04 | None | None | None | None | N | None | 4.58738E-04 | 6.54793E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs200018866 |
-0.933 | 0.529 | N | 0.293 | 0.235 | None | 1000 genomes | None | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/Q | rs200018866 |
-0.933 | 0.529 | N | 0.293 | 0.235 | None | gnomAD-4.0.0 | 5.51589E-05 | None | None | None | None | N | None | 3.73892E-04 | 2.33427E-04 | None | 0 | 6.68837E-05 | None | 0 | 0 | 2.79726E-05 | 8.78522E-05 | 4.80384E-05 |
| R/W | rs1183941490 |
-0.765 | 1.0 | N | 0.549 | 0.439 | 0.593515057505 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/W | rs1183941490 |
-0.765 | 1.0 | N | 0.549 | 0.439 | 0.593515057505 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/W | rs1183941490 |
-0.765 | 1.0 | N | 0.549 | 0.439 | 0.593515057505 | gnomAD-4.0.0 | 8.67657E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22955E-05 | None | 0 | 0 | 1.10193E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3982 | ambiguous | 0.3494 | ambiguous | -1.6 | Destabilizing | 0.737 | D | 0.425 | neutral | None | None | None | None | N |
| R/C | 0.1885 | likely_benign | 0.1677 | benign | -1.617 | Destabilizing | 0.998 | D | 0.531 | neutral | None | None | None | None | N |
| R/D | 0.7573 | likely_pathogenic | 0.732 | pathogenic | -0.351 | Destabilizing | 0.872 | D | 0.553 | neutral | None | None | None | None | N |
| R/E | 0.332 | likely_benign | 0.3149 | benign | -0.183 | Destabilizing | 0.584 | D | 0.477 | neutral | None | None | None | None | N |
| R/F | 0.517 | ambiguous | 0.4642 | ambiguous | -1.165 | Destabilizing | 0.98 | D | 0.571 | neutral | None | None | None | None | N |
| R/G | 0.3668 | ambiguous | 0.3229 | benign | -1.935 | Destabilizing | 0.963 | D | 0.54 | neutral | D | 0.535041057 | None | None | N |
| R/H | 0.1033 | likely_benign | 0.0988 | benign | -1.867 | Destabilizing | 0.047 | N | 0.327 | neutral | None | None | None | None | N |
| R/I | 0.2162 | likely_benign | 0.1998 | benign | -0.664 | Destabilizing | 0.083 | N | 0.481 | neutral | None | None | None | None | N |
| R/K | 0.0856 | likely_benign | 0.0836 | benign | -1.365 | Destabilizing | 0.037 | N | 0.216 | neutral | None | None | None | None | N |
| R/L | 0.2298 | likely_benign | 0.2016 | benign | -0.664 | Destabilizing | 0.729 | D | 0.497 | neutral | N | 0.479649134 | None | None | N |
| R/M | 0.2391 | likely_benign | 0.2063 | benign | -1.055 | Destabilizing | 0.98 | D | 0.547 | neutral | None | None | None | None | N |
| R/N | 0.5864 | likely_pathogenic | 0.5417 | ambiguous | -0.918 | Destabilizing | 0.872 | D | 0.495 | neutral | None | None | None | None | N |
| R/P | 0.9595 | likely_pathogenic | 0.9625 | pathogenic | -0.96 | Destabilizing | 0.988 | D | 0.598 | neutral | N | 0.505420107 | None | None | N |
| R/Q | 0.0964 | likely_benign | 0.095 | benign | -1.026 | Destabilizing | 0.529 | D | 0.293 | neutral | N | 0.460599226 | None | None | N |
| R/S | 0.4577 | ambiguous | 0.4247 | ambiguous | -1.919 | Destabilizing | 0.584 | D | 0.473 | neutral | None | None | None | None | N |
| R/T | 0.2065 | likely_benign | 0.1863 | benign | -1.549 | Destabilizing | 0.083 | N | 0.294 | neutral | None | None | None | None | N |
| R/V | 0.2782 | likely_benign | 0.2541 | benign | -0.96 | Destabilizing | 0.584 | D | 0.505 | neutral | None | None | None | None | N |
| R/W | 0.2256 | likely_benign | 0.2044 | benign | -0.628 | Destabilizing | 1.0 | D | 0.549 | neutral | N | 0.505927086 | None | None | N |
| R/Y | 0.4017 | ambiguous | 0.3526 | ambiguous | -0.429 | Destabilizing | 0.96 | D | 0.596 | 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.