Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32649 | 98170;98171;98172 | chr2:178540221;178540220;178540219 | chr2:179404948;179404947;179404946 |
| N2AB | 31008 | 93247;93248;93249 | chr2:178540221;178540220;178540219 | chr2:179404948;179404947;179404946 |
| N2A | 30081 | 90466;90467;90468 | chr2:178540221;178540220;178540219 | chr2:179404948;179404947;179404946 |
| N2B | 23584 | 70975;70976;70977 | chr2:178540221;178540220;178540219 | chr2:179404948;179404947;179404946 |
| Novex-1 | 23709 | 71350;71351;71352 | chr2:178540221;178540220;178540219 | chr2:179404948;179404947;179404946 |
| Novex-2 | 23776 | 71551;71552;71553 | chr2:178540221;178540220;178540219 | chr2:179404948;179404947;179404946 |
| 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/E | None | None | 0.997 | N | 0.537 | 0.201 | 0.255270683199 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85825E-06 | 0 | 0 |
| K/N | rs773776767  |
-0.166 | 0.999 | N | 0.581 | 0.291 | 0.139678290688 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65399E-04 |
| K/N | rs773776767 |
-0.166 | 0.999 | N | 0.581 | 0.291 | 0.139678290688 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/N | rs773776767 |
-0.166 | 0.999 | N | 0.581 | 0.291 | 0.139678290688 | gnomAD-4.0.0 | 1.6241E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80747E-05 | 0 | 3.40344E-05 |
| K/T | rs759201494 |
-0.342 | 0.99 | N | 0.617 | 0.323 | None | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65399E-04 |
| K/T | rs759201494 |
-0.342 | 0.99 | N | 0.617 | 0.323 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20726E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs759201494 |
-0.342 | 0.99 | N | 0.617 | 0.323 | None | gnomAD-4.0.0 | 4.95775E-06 | None | None | None | None | N | None | 1.06829E-04 | 0 | 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 | 0.5591 | ambiguous | 0.591 | pathogenic | -0.273 | Destabilizing | 0.985 | D | 0.585 | neutral | None | None | None | None | N |
| K/C | 0.8119 | likely_pathogenic | 0.8082 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/D | 0.9359 | likely_pathogenic | 0.9446 | pathogenic | -0.121 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/E | 0.5577 | ambiguous | 0.619 | pathogenic | -0.08 | Destabilizing | 0.997 | D | 0.537 | neutral | N | 0.48509416 | None | None | N |
| K/F | 0.8843 | likely_pathogenic | 0.891 | pathogenic | -0.284 | Destabilizing | 0.996 | D | 0.739 | prob.delet. | None | None | None | None | N |
| K/G | 0.8352 | likely_pathogenic | 0.8458 | pathogenic | -0.564 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| K/H | 0.5697 | likely_pathogenic | 0.5832 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/I | 0.4546 | ambiguous | 0.4797 | ambiguous | 0.444 | Stabilizing | 0.971 | D | 0.639 | neutral | None | None | None | None | N |
| K/L | 0.4228 | ambiguous | 0.4455 | ambiguous | 0.444 | Stabilizing | 0.08 | N | 0.343 | neutral | None | None | None | None | N |
| K/M | 0.3615 | ambiguous | 0.3793 | ambiguous | 0.486 | Stabilizing | 0.911 | D | 0.457 | neutral | N | 0.515267925 | None | None | N |
| K/N | 0.8547 | likely_pathogenic | 0.862 | pathogenic | -0.018 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.465746471 | None | None | N |
| K/P | 0.6508 | likely_pathogenic | 0.6767 | pathogenic | 0.235 | Stabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2562 | likely_benign | 0.2692 | benign | -0.229 | Destabilizing | 0.997 | D | 0.585 | neutral | N | 0.454352752 | None | None | N |
| K/R | 0.0881 | likely_benign | 0.0909 | benign | -0.33 | Destabilizing | 0.99 | D | 0.527 | neutral | N | 0.483712867 | None | None | N |
| K/S | 0.8013 | likely_pathogenic | 0.8069 | pathogenic | -0.59 | Destabilizing | 0.993 | D | 0.516 | neutral | None | None | None | None | N |
| K/T | 0.4357 | ambiguous | 0.4556 | ambiguous | -0.376 | Destabilizing | 0.99 | D | 0.617 | neutral | N | 0.46039329 | None | None | N |
| K/V | 0.3797 | ambiguous | 0.4022 | ambiguous | 0.235 | Stabilizing | 0.971 | D | 0.604 | neutral | None | None | None | None | N |
| K/W | 0.8815 | likely_pathogenic | 0.8962 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| K/Y | 0.8002 | likely_pathogenic | 0.8138 | pathogenic | 0.128 | Stabilizing | 0.999 | D | 0.747 | deleterious | 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.