Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2802 | 8629;8630;8631 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
| N2AB | 2802 | 8629;8630;8631 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
| N2A | 2802 | 8629;8630;8631 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
| N2B | 2756 | 8491;8492;8493 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
| Novex-1 | 2756 | 8491;8492;8493 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
| Novex-2 | 2756 | 8491;8492;8493 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
| Novex-3 | 2802 | 8629;8630;8631 | chr2:178770297;178770296;178770295 | chr2:179635024;179635023;179635022 |
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 | rs1294814423  |
0.154 | 0.999 | N | 0.645 | 0.438 | 0.632977624075 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs1294814423 |
0.154 | 0.999 | N | 0.645 | 0.438 | 0.632977624075 | gnomAD-4.0.0 | 1.59049E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | 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 | 0.827 | likely_pathogenic | 0.7687 | pathogenic | 0.015 | Stabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| K/C | 0.9465 | likely_pathogenic | 0.9389 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| K/D | 0.9588 | likely_pathogenic | 0.939 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| K/E | 0.6884 | likely_pathogenic | 0.5981 | pathogenic | -0.072 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.51597344 | None | None | N |
| K/F | 0.9855 | likely_pathogenic | 0.9769 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/G | 0.8814 | likely_pathogenic | 0.8416 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| K/H | 0.7539 | likely_pathogenic | 0.7097 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| K/I | 0.8843 | likely_pathogenic | 0.8237 | pathogenic | 0.571 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| K/L | 0.8659 | likely_pathogenic | 0.8032 | pathogenic | 0.571 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| K/M | 0.789 | likely_pathogenic | 0.7202 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.604149539 | None | None | N |
| K/N | 0.9255 | likely_pathogenic | 0.8861 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.792 | deleterious | D | 0.570081357 | None | None | N |
| K/P | 0.9719 | likely_pathogenic | 0.9656 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| K/Q | 0.4577 | ambiguous | 0.3912 | ambiguous | 0.087 | Stabilizing | 1.0 | D | 0.773 | deleterious | N | 0.515127401 | None | None | N |
| K/R | 0.1085 | likely_benign | 0.1058 | benign | -0.107 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.513862951 | None | None | N |
| K/S | 0.8892 | likely_pathogenic | 0.8376 | pathogenic | -0.209 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/T | 0.7183 | likely_pathogenic | 0.6276 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.514231533 | None | None | N |
| K/V | 0.8022 | likely_pathogenic | 0.7317 | pathogenic | 0.414 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/W | 0.9682 | likely_pathogenic | 0.9612 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| K/Y | 0.9592 | likely_pathogenic | 0.9466 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | 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.