Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24564 | 73915;73916;73917 | chr2:178572442;178572441;178572440 | chr2:179437169;179437168;179437167 |
| N2AB | 22923 | 68992;68993;68994 | chr2:178572442;178572441;178572440 | chr2:179437169;179437168;179437167 |
| N2A | 21996 | 66211;66212;66213 | chr2:178572442;178572441;178572440 | chr2:179437169;179437168;179437167 |
| N2B | 15499 | 46720;46721;46722 | chr2:178572442;178572441;178572440 | chr2:179437169;179437168;179437167 |
| Novex-1 | 15624 | 47095;47096;47097 | chr2:178572442;178572441;178572440 | chr2:179437169;179437168;179437167 |
| Novex-2 | 15691 | 47296;47297;47298 | chr2:178572442;178572441;178572440 | chr2:179437169;179437168;179437167 |
| 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/I | rs758888839  |
None | 0.995 | N | 0.672 | 0.478 | 0.527251791467 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/I | rs758888839 |
None | 0.995 | N | 0.672 | 0.478 | 0.527251791467 | 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/I | rs758888839 |
None | 0.995 | N | 0.672 | 0.478 | 0.527251791467 | gnomAD-4.0.0 | 9.92236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35717E-05 | 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 | 0.9745 | likely_pathogenic | 0.9451 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.578 | neutral | None | None | None | None | N |
| K/C | 0.988 | likely_pathogenic | 0.9763 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/D | 0.9953 | likely_pathogenic | 0.9913 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| K/E | 0.9795 | likely_pathogenic | 0.9553 | pathogenic | -0.5 | Destabilizing | 0.998 | D | 0.615 | neutral | N | 0.502181198 | None | None | N |
| K/F | 0.9931 | likely_pathogenic | 0.9848 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| K/G | 0.9828 | likely_pathogenic | 0.9637 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.541 | neutral | None | None | None | None | N |
| K/H | 0.9062 | likely_pathogenic | 0.8332 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/I | 0.9656 | likely_pathogenic | 0.9278 | pathogenic | 0.064 | Stabilizing | 0.995 | D | 0.672 | neutral | N | 0.484384158 | None | None | N |
| K/L | 0.9153 | likely_pathogenic | 0.8388 | pathogenic | 0.064 | Stabilizing | 0.996 | D | 0.541 | neutral | None | None | None | None | N |
| K/M | 0.8749 | likely_pathogenic | 0.7684 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| K/N | 0.9895 | likely_pathogenic | 0.9761 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.632 | neutral | N | 0.504298783 | None | None | N |
| K/P | 0.9834 | likely_pathogenic | 0.9704 | pathogenic | 0.031 | Stabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | N |
| K/Q | 0.8349 | likely_pathogenic | 0.7037 | pathogenic | -0.338 | Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.46621377 | None | None | N |
| K/R | 0.1687 | likely_benign | 0.1338 | benign | -0.255 | Destabilizing | 0.997 | D | 0.559 | neutral | N | 0.471727792 | None | None | N |
| K/S | 0.9898 | likely_pathogenic | 0.9774 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| K/T | 0.9551 | likely_pathogenic | 0.9078 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.58 | neutral | N | 0.521596465 | None | None | N |
| K/V | 0.9486 | likely_pathogenic | 0.9024 | pathogenic | 0.031 | Stabilizing | 0.997 | D | 0.593 | neutral | None | None | None | None | N |
| K/W | 0.9893 | likely_pathogenic | 0.9762 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/Y | 0.9782 | likely_pathogenic | 0.9599 | pathogenic | -0.263 | Destabilizing | 0.999 | D | 0.637 | 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.