Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26729 | 80410;80411;80412 | chr2:178565947;178565946;178565945 | chr2:179430674;179430673;179430672 |
| N2AB | 25088 | 75487;75488;75489 | chr2:178565947;178565946;178565945 | chr2:179430674;179430673;179430672 |
| N2A | 24161 | 72706;72707;72708 | chr2:178565947;178565946;178565945 | chr2:179430674;179430673;179430672 |
| N2B | 17664 | 53215;53216;53217 | chr2:178565947;178565946;178565945 | chr2:179430674;179430673;179430672 |
| Novex-1 | 17789 | 53590;53591;53592 | chr2:178565947;178565946;178565945 | chr2:179430674;179430673;179430672 |
| Novex-2 | 17856 | 53791;53792;53793 | chr2:178565947;178565946;178565945 | chr2:179430674;179430673;179430672 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1252013447  |
None | 0.998 | N | 0.385 | 0.352 | 0.392702134506 | 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 |
| A/P | rs1252013447 |
None | 0.998 | N | 0.385 | 0.352 | 0.392702134506 | gnomAD-4.0.0 | 1.85928E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54307E-06 | 0 | 0 |
| A/V | rs747650124 |
-0.038 | 0.518 | N | 0.207 | 0.115 | 0.361558571881 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | rs747650124 |
-0.038 | 0.518 | N | 0.207 | 0.115 | 0.361558571881 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs747650124 |
-0.038 | 0.518 | N | 0.207 | 0.115 | 0.361558571881 | gnomAD-4.0.0 | 1.79742E-05 | None | None | None | None | N | None | 6.67824E-05 | 3.33556E-05 | None | 0 | 0 | None | 0 | 0 | 1.61065E-05 | 0 | 4.80446E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8255 | likely_pathogenic | 0.8625 | pathogenic | -0.821 | Destabilizing | 1.0 | D | 0.385 | neutral | None | None | None | None | N |
| A/D | 0.9648 | likely_pathogenic | 0.9709 | pathogenic | -0.347 | Destabilizing | 0.996 | D | 0.543 | neutral | None | None | None | None | N |
| A/E | 0.9481 | likely_pathogenic | 0.9588 | pathogenic | -0.457 | Destabilizing | 0.999 | D | 0.357 | neutral | N | 0.467972624 | None | None | N |
| A/F | 0.8124 | likely_pathogenic | 0.8356 | pathogenic | -0.795 | Destabilizing | 0.999 | D | 0.533 | neutral | None | None | None | None | N |
| A/G | 0.3547 | ambiguous | 0.4383 | ambiguous | -0.553 | Destabilizing | 0.018 | N | 0.226 | neutral | N | 0.458681137 | None | None | N |
| A/H | 0.9435 | likely_pathogenic | 0.9548 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.573 | neutral | None | None | None | None | N |
| A/I | 0.661 | likely_pathogenic | 0.7071 | pathogenic | -0.349 | Destabilizing | 0.984 | D | 0.335 | neutral | None | None | None | None | N |
| A/K | 0.9784 | likely_pathogenic | 0.9833 | pathogenic | -0.75 | Destabilizing | 0.999 | D | 0.359 | neutral | None | None | None | None | N |
| A/L | 0.5672 | likely_pathogenic | 0.6189 | pathogenic | -0.349 | Destabilizing | 0.984 | D | 0.389 | neutral | None | None | None | None | N |
| A/M | 0.6164 | likely_pathogenic | 0.6647 | pathogenic | -0.556 | Destabilizing | 0.999 | D | 0.4 | neutral | None | None | None | None | N |
| A/N | 0.7413 | likely_pathogenic | 0.7967 | pathogenic | -0.477 | Destabilizing | 0.964 | D | 0.541 | neutral | None | None | None | None | N |
| A/P | 0.9096 | likely_pathogenic | 0.9028 | pathogenic | -0.347 | Destabilizing | 0.998 | D | 0.385 | neutral | N | 0.477622982 | None | None | N |
| A/Q | 0.8685 | likely_pathogenic | 0.8955 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.369 | neutral | None | None | None | None | N |
| A/R | 0.9482 | likely_pathogenic | 0.9571 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.374 | neutral | None | None | None | None | N |
| A/S | 0.1703 | likely_benign | 0.1772 | benign | -0.747 | Destabilizing | 0.642 | D | 0.4 | neutral | N | 0.437612431 | None | None | N |
| A/T | 0.2417 | likely_benign | 0.2959 | benign | -0.768 | Destabilizing | 0.941 | D | 0.352 | neutral | N | 0.43305476 | None | None | N |
| A/V | 0.3706 | ambiguous | 0.4033 | ambiguous | -0.347 | Destabilizing | 0.518 | D | 0.207 | neutral | N | 0.466609974 | None | None | N |
| A/W | 0.9755 | likely_pathogenic | 0.9801 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9075 | likely_pathogenic | 0.9215 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.548 | 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.