Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35659 | 107200;107201;107202 | chr2:178528776;178528775;178528774 | chr2:179393503;179393502;179393501 |
| N2AB | 34018 | 102277;102278;102279 | chr2:178528776;178528775;178528774 | chr2:179393503;179393502;179393501 |
| N2A | 33091 | 99496;99497;99498 | chr2:178528776;178528775;178528774 | chr2:179393503;179393502;179393501 |
| N2B | 26594 | 80005;80006;80007 | chr2:178528776;178528775;178528774 | chr2:179393503;179393502;179393501 |
| Novex-1 | 26719 | 80380;80381;80382 | chr2:178528776;178528775;178528774 | chr2:179393503;179393502;179393501 |
| Novex-2 | 26786 | 80581;80582;80583 | chr2:178528776;178528775;178528774 | chr2:179393503;179393502;179393501 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs878992336  |
0.384 | 0.102 | N | 0.227 | 0.116 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 1.56E-05 | 0 |
| D/N | rs878992336 |
0.384 | 0.102 | N | 0.227 | 0.116 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/N | rs878992336 |
0.384 | 0.102 | N | 0.227 | 0.116 | None | gnomAD-4.0.0 | 7.44257E-06 | None | None | None | None | N | None | 4.00545E-05 | 1.66895E-05 | None | 0 | 0 | None | 0 | 1.64636E-04 | 5.93805E-06 | 0 | 0 |
| D/Y | None | None | 0.999 | N | 0.764 | 0.386 | 0.671546516869 | gnomAD-4.0.0 | 6.84829E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00234E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4505 | ambiguous | 0.4195 | ambiguous | 0.269 | Stabilizing | 0.939 | D | 0.631 | neutral | N | 0.474029883 | None | None | N |
| D/C | 0.905 | likely_pathogenic | 0.8696 | pathogenic | 0.411 | Stabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | None | N |
| D/E | 0.3789 | ambiguous | 0.3672 | ambiguous | -0.552 | Destabilizing | 0.863 | D | 0.463 | neutral | N | 0.472989733 | None | None | N |
| D/F | 0.8297 | likely_pathogenic | 0.8094 | pathogenic | -0.56 | Destabilizing | 0.998 | D | 0.764 | deleterious | None | None | None | None | N |
| D/G | 0.4657 | ambiguous | 0.4337 | ambiguous | 0.089 | Stabilizing | 0.885 | D | 0.521 | neutral | N | 0.474723317 | None | None | N |
| D/H | 0.5716 | likely_pathogenic | 0.5337 | ambiguous | -0.865 | Destabilizing | 0.996 | D | 0.717 | prob.delet. | N | 0.474723317 | None | None | N |
| D/I | 0.6791 | likely_pathogenic | 0.6433 | pathogenic | 0.672 | Stabilizing | 0.993 | D | 0.777 | deleterious | None | None | None | None | N |
| D/K | 0.7015 | likely_pathogenic | 0.6805 | pathogenic | 0.456 | Stabilizing | 0.953 | D | 0.605 | neutral | None | None | None | None | N |
| D/L | 0.6884 | likely_pathogenic | 0.662 | pathogenic | 0.672 | Stabilizing | 0.993 | D | 0.755 | deleterious | None | None | None | None | N |
| D/M | 0.8912 | likely_pathogenic | 0.8722 | pathogenic | 1.006 | Stabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| D/N | 0.1682 | likely_benign | 0.1559 | benign | 0.333 | Stabilizing | 0.102 | N | 0.227 | neutral | N | 0.444053693 | None | None | N |
| D/P | 0.9404 | likely_pathogenic | 0.9373 | pathogenic | 0.562 | Stabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Q | 0.6518 | likely_pathogenic | 0.6227 | pathogenic | 0.328 | Stabilizing | 0.993 | D | 0.649 | neutral | None | None | None | None | N |
| D/R | 0.7104 | likely_pathogenic | 0.6874 | pathogenic | 0.13 | Stabilizing | 0.986 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/S | 0.2359 | likely_benign | 0.2168 | benign | 0.226 | Stabilizing | 0.91 | D | 0.492 | neutral | None | None | None | None | N |
| D/T | 0.5331 | ambiguous | 0.4826 | ambiguous | 0.369 | Stabilizing | 0.953 | D | 0.591 | neutral | None | None | None | None | N |
| D/V | 0.4958 | ambiguous | 0.4595 | ambiguous | 0.562 | Stabilizing | 0.991 | D | 0.766 | deleterious | N | 0.474549958 | None | None | N |
| D/W | 0.9708 | likely_pathogenic | 0.9668 | pathogenic | -0.822 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/Y | 0.4509 | ambiguous | 0.4242 | ambiguous | -0.392 | Destabilizing | 0.999 | D | 0.764 | deleterious | N | 0.475070033 | 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.