Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3372 | 10339;10340;10341 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
| N2AB | 3372 | 10339;10340;10341 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
| N2A | 3372 | 10339;10340;10341 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
| N2B | 3326 | 10201;10202;10203 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
| Novex-1 | 3326 | 10201;10202;10203 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
| Novex-2 | 3326 | 10201;10202;10203 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
| Novex-3 | 3372 | 10339;10340;10341 | chr2:178764177;178759172;178759171 | chr2:179628904;179623899;179623898 |
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/G | None | None | 1.0 | N | 0.615 | None | 0.409262747536 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/H | rs749110401  |
0.007 | 1.0 | D | 0.606 | 0.581 | 0.461845970543 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| D/V | None | None | 1.0 | D | 0.742 | None | 0.739606122391 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | I | None | 1.26695E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2698 | likely_benign | 0.2817 | benign | 0.013 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.506074885 | None | None | I |
| D/C | 0.8518 | likely_pathogenic | 0.8524 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| D/E | 0.2579 | likely_benign | 0.2766 | benign | -0.21 | Destabilizing | 1.0 | D | 0.429 | neutral | N | 0.501696755 | None | None | I |
| D/F | 0.7755 | likely_pathogenic | 0.7877 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| D/G | 0.2762 | likely_benign | 0.2929 | benign | -0.11 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.507462107 | None | None | I |
| D/H | 0.4474 | ambiguous | 0.4843 | ambiguous | 0.285 | Stabilizing | 1.0 | D | 0.606 | neutral | D | 0.567178943 | None | None | I |
| D/I | 0.6315 | likely_pathogenic | 0.6694 | pathogenic | 0.269 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/K | 0.5617 | ambiguous | 0.6231 | pathogenic | 0.54 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | I |
| D/L | 0.5875 | likely_pathogenic | 0.6144 | pathogenic | 0.269 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| D/M | 0.8271 | likely_pathogenic | 0.8324 | pathogenic | 0.221 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| D/N | 0.1271 | likely_benign | 0.1378 | benign | 0.368 | Stabilizing | 1.0 | D | 0.597 | neutral | N | 0.513138782 | None | None | I |
| D/P | 0.7685 | likely_pathogenic | 0.8017 | pathogenic | 0.204 | Stabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | I |
| D/Q | 0.5081 | ambiguous | 0.5568 | ambiguous | 0.364 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | I |
| D/R | 0.5697 | likely_pathogenic | 0.6207 | pathogenic | 0.665 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| D/S | 0.1729 | likely_benign | 0.1893 | benign | 0.27 | Stabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | I |
| D/T | 0.4229 | ambiguous | 0.4584 | ambiguous | 0.366 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | I |
| D/V | 0.4212 | ambiguous | 0.4399 | ambiguous | 0.204 | Stabilizing | 1.0 | D | 0.742 | deleterious | D | 0.583563682 | None | None | I |
| D/W | 0.9592 | likely_pathogenic | 0.9607 | pathogenic | -0.085 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| D/Y | 0.3829 | ambiguous | 0.3978 | ambiguous | 0.106 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.649891818 | None | None | I |
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.