Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6044 | 18355;18356;18357 | chr2:178730270;178730269;178730268 | chr2:179594997;179594996;179594995 |
| N2AB | 5727 | 17404;17405;17406 | chr2:178730270;178730269;178730268 | chr2:179594997;179594996;179594995 |
| N2A | 4800 | 14623;14624;14625 | chr2:178730270;178730269;178730268 | chr2:179594997;179594996;179594995 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs749108620  |
-0.636 | 0.576 | N | 0.408 | 0.195 | 0.21737058555 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| K/N | rs749108620 |
-0.636 | 0.576 | N | 0.408 | 0.195 | 0.21737058555 | gnomAD-4.0.0 | 1.5931E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43464E-05 | 0 |
| K/Q | rs1560783710 |
None | 0.997 | N | 0.597 | 0.348 | 0.310458034454 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/Q | rs1560783710 |
None | 0.997 | N | 0.597 | 0.348 | 0.310458034454 | 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 |
| K/Q | rs1560783710 |
None | 0.997 | N | 0.597 | 0.348 | 0.310458034454 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47024E-05 | 0 | 0 |
| K/T | rs2080198775 |
None | 0.978 | N | 0.621 | 0.365 | 0.372446077551 | gnomAD-4.0.0 | 1.59318E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86076E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4903 | ambiguous | 0.5333 | ambiguous | -0.859 | Destabilizing | 0.992 | D | 0.561 | neutral | None | None | None | None | N |
| K/C | 0.7719 | likely_pathogenic | 0.7547 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/D | 0.8115 | likely_pathogenic | 0.8414 | pathogenic | -0.469 | Destabilizing | 0.99 | D | 0.647 | neutral | None | None | None | None | N |
| K/E | 0.3254 | likely_benign | 0.3488 | ambiguous | -0.302 | Destabilizing | 0.978 | D | 0.533 | neutral | N | 0.489612624 | None | None | N |
| K/F | 0.8631 | likely_pathogenic | 0.8781 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/G | 0.6908 | likely_pathogenic | 0.7193 | pathogenic | -1.282 | Destabilizing | 0.983 | D | 0.627 | neutral | None | None | None | None | N |
| K/H | 0.3287 | likely_benign | 0.3317 | benign | -1.518 | Destabilizing | 0.998 | D | 0.676 | prob.neutral | None | None | None | None | N |
| K/I | 0.4778 | ambiguous | 0.4993 | ambiguous | 0.272 | Stabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/L | 0.4883 | ambiguous | 0.5198 | ambiguous | 0.272 | Stabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/M | 0.3375 | likely_benign | 0.3552 | ambiguous | 0.102 | Stabilizing | 1.0 | D | 0.646 | neutral | D | 0.524882778 | None | None | N |
| K/N | 0.552 | ambiguous | 0.5985 | pathogenic | -0.86 | Destabilizing | 0.576 | D | 0.408 | neutral | N | 0.508297173 | None | None | N |
| K/P | 0.9786 | likely_pathogenic | 0.9846 | pathogenic | -0.076 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/Q | 0.145 | likely_benign | 0.1528 | benign | -0.825 | Destabilizing | 0.997 | D | 0.597 | neutral | N | 0.459927222 | None | None | N |
| K/R | 0.0899 | likely_benign | 0.0882 | benign | -0.799 | Destabilizing | 0.37 | N | 0.449 | neutral | N | 0.442496255 | None | None | N |
| K/S | 0.4662 | ambiguous | 0.5114 | ambiguous | -1.527 | Destabilizing | 0.983 | D | 0.518 | neutral | None | None | None | None | N |
| K/T | 0.1892 | likely_benign | 0.2051 | benign | -1.132 | Destabilizing | 0.978 | D | 0.621 | neutral | N | 0.467679914 | None | None | N |
| K/V | 0.4332 | ambiguous | 0.4499 | ambiguous | -0.076 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/W | 0.8547 | likely_pathogenic | 0.861 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| K/Y | 0.7415 | likely_pathogenic | 0.759 | pathogenic | 0.094 | Stabilizing | 0.999 | D | 0.713 | prob.delet. | 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.