Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2758 | 8497;8498;8499 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
| N2AB | 2758 | 8497;8498;8499 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
| N2A | 2758 | 8497;8498;8499 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
| N2B | 2712 | 8359;8360;8361 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
| Novex-1 | 2712 | 8359;8360;8361 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
| Novex-2 | 2712 | 8359;8360;8361 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
| Novex-3 | 2758 | 8497;8498;8499 | chr2:178770520;178770519;178770518 | chr2:179635247;179635246;179635245 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs748372588  |
0.25 | 0.801 | D | 0.363 | 0.433 | 0.422404719673 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 5.78E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs748372588 |
0.25 | 0.801 | D | 0.363 | 0.433 | 0.422404719673 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| K/R | rs748372588 |
0.25 | 0.801 | D | 0.363 | 0.433 | 0.422404719673 | gnomAD-4.0.0 | 6.40277E-06 | None | None | None | None | N | None | 1.69102E-05 | 5.08354E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84204E-05 |
| K/T | None | None | 0.801 | D | 0.415 | 0.58 | 0.579989844333 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.1728 | likely_benign | 0.2028 | benign | -0.01 | Destabilizing | 0.688 | D | 0.387 | neutral | None | None | None | None | N |
| K/C | 0.6186 | likely_pathogenic | 0.6613 | pathogenic | -0.505 | Destabilizing | 0.998 | D | 0.373 | neutral | None | None | None | None | N |
| K/D | 0.159 | likely_benign | 0.1973 | benign | -0.085 | Destabilizing | 0.007 | N | 0.205 | neutral | None | None | None | None | N |
| K/E | 0.0681 | likely_benign | 0.075 | benign | -0.095 | Destabilizing | 0.005 | N | 0.164 | neutral | N | 0.491458949 | None | None | N |
| K/F | 0.6308 | likely_pathogenic | 0.6935 | pathogenic | -0.36 | Destabilizing | 0.991 | D | 0.355 | neutral | None | None | None | None | N |
| K/G | 0.2843 | likely_benign | 0.347 | ambiguous | -0.14 | Destabilizing | 0.842 | D | 0.417 | neutral | None | None | None | None | N |
| K/H | 0.2006 | likely_benign | 0.2151 | benign | -0.267 | Destabilizing | 0.974 | D | 0.341 | neutral | None | None | None | None | N |
| K/I | 0.2392 | likely_benign | 0.2777 | benign | 0.243 | Stabilizing | 0.966 | D | 0.379 | neutral | D | 0.534989711 | None | None | N |
| K/L | 0.2613 | likely_benign | 0.3077 | benign | 0.243 | Stabilizing | 0.842 | D | 0.385 | neutral | None | None | None | None | N |
| K/M | 0.1686 | likely_benign | 0.1892 | benign | -0.066 | Destabilizing | 0.998 | D | 0.343 | neutral | None | None | None | None | N |
| K/N | 0.1369 | likely_benign | 0.169 | benign | -0.045 | Destabilizing | 0.669 | D | 0.337 | neutral | D | 0.5446773 | None | None | N |
| K/P | 0.6622 | likely_pathogenic | 0.7848 | pathogenic | 0.183 | Stabilizing | 0.974 | D | 0.357 | neutral | None | None | None | None | N |
| K/Q | 0.0873 | likely_benign | 0.0884 | benign | -0.17 | Destabilizing | 0.669 | D | 0.387 | neutral | N | 0.51950504 | None | None | N |
| K/R | 0.0872 | likely_benign | 0.086 | benign | -0.122 | Destabilizing | 0.801 | D | 0.363 | neutral | D | 0.547968552 | None | None | N |
| K/S | 0.1598 | likely_benign | 0.1968 | benign | -0.452 | Destabilizing | 0.842 | D | 0.324 | neutral | None | None | None | None | N |
| K/T | 0.092 | likely_benign | 0.1063 | benign | -0.337 | Destabilizing | 0.801 | D | 0.415 | neutral | D | 0.547686348 | None | None | N |
| K/V | 0.2214 | likely_benign | 0.2555 | benign | 0.183 | Stabilizing | 0.915 | D | 0.401 | neutral | None | None | None | None | N |
| K/W | 0.6996 | likely_pathogenic | 0.7284 | pathogenic | -0.449 | Destabilizing | 0.998 | D | 0.446 | neutral | None | None | None | None | N |
| K/Y | 0.4972 | ambiguous | 0.5402 | ambiguous | -0.087 | Destabilizing | 0.991 | D | 0.353 | 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.