Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22465 | 67618;67619;67620 | chr2:178579804;178579803;178579802 | chr2:179444531;179444530;179444529 |
| N2AB | 20824 | 62695;62696;62697 | chr2:178579804;178579803;178579802 | chr2:179444531;179444530;179444529 |
| N2A | 19897 | 59914;59915;59916 | chr2:178579804;178579803;178579802 | chr2:179444531;179444530;179444529 |
| N2B | 13400 | 40423;40424;40425 | chr2:178579804;178579803;178579802 | chr2:179444531;179444530;179444529 |
| Novex-1 | 13525 | 40798;40799;40800 | chr2:178579804;178579803;178579802 | chr2:179444531;179444530;179444529 |
| Novex-2 | 13592 | 40999;41000;41001 | chr2:178579804;178579803;178579802 | chr2:179444531;179444530;179444529 |
| 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/T | rs761425517  |
-0.417 | 0.999 | N | 0.685 | 0.334 | 0.361360026772 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs761425517 |
-0.417 | 0.999 | N | 0.685 | 0.334 | 0.361360026772 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 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 | 0.4095 | ambiguous | 0.3598 | ambiguous | -0.222 | Destabilizing | 0.998 | D | 0.538 | neutral | None | None | None | None | N |
| K/C | 0.8107 | likely_pathogenic | 0.7773 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| K/D | 0.787 | likely_pathogenic | 0.7523 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/E | 0.4349 | ambiguous | 0.371 | ambiguous | -0.284 | Destabilizing | 0.996 | D | 0.468 | neutral | N | 0.510069962 | None | None | N |
| K/F | 0.9275 | likely_pathogenic | 0.9129 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| K/G | 0.4475 | ambiguous | 0.4293 | ambiguous | -0.403 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/H | 0.5232 | ambiguous | 0.4854 | ambiguous | -0.982 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| K/I | 0.7306 | likely_pathogenic | 0.6522 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| K/L | 0.6295 | likely_pathogenic | 0.5754 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/M | 0.5386 | ambiguous | 0.4632 | ambiguous | 0.418 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.50504608 | None | None | N |
| K/N | 0.6379 | likely_pathogenic | 0.5804 | pathogenic | 0.123 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | N | 0.465986734 | None | None | N |
| K/P | 0.7121 | likely_pathogenic | 0.7122 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2399 | likely_benign | 0.2084 | benign | -0.243 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | N | 0.4721028 | None | None | N |
| K/R | 0.0839 | likely_benign | 0.0835 | benign | 0.021 | Stabilizing | 0.64 | D | 0.297 | neutral | N | 0.508552597 | None | None | N |
| K/S | 0.5002 | ambiguous | 0.4468 | ambiguous | -0.392 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | N |
| K/T | 0.3989 | ambiguous | 0.326 | benign | -0.264 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.47550616 | None | None | N |
| K/V | 0.6115 | likely_pathogenic | 0.5378 | ambiguous | 0.068 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/W | 0.939 | likely_pathogenic | 0.9348 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/Y | 0.8556 | likely_pathogenic | 0.8306 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.787 | 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.