Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31338 | 94237;94238;94239 | chr2:178547614;178547613;178547612 | chr2:179412341;179412340;179412339 |
| N2AB | 29697 | 89314;89315;89316 | chr2:178547614;178547613;178547612 | chr2:179412341;179412340;179412339 |
| N2A | 28770 | 86533;86534;86535 | chr2:178547614;178547613;178547612 | chr2:179412341;179412340;179412339 |
| N2B | 22273 | 67042;67043;67044 | chr2:178547614;178547613;178547612 | chr2:179412341;179412340;179412339 |
| Novex-1 | 22398 | 67417;67418;67419 | chr2:178547614;178547613;178547612 | chr2:179412341;179412340;179412339 |
| Novex-2 | 22465 | 67618;67619;67620 | chr2:178547614;178547613;178547612 | chr2:179412341;179412340;179412339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | N | 0.697 | 0.512 | 0.408307896497 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.8226E-04 | 0 |
| G/R | rs1433208677  |
-0.087 | 1.0 | N | 0.793 | 0.486 | 0.7212188221 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1433208677 |
-0.087 | 1.0 | N | 0.793 | 0.486 | 0.7212188221 | gnomAD-4.0.0 | 1.59112E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6972 | likely_pathogenic | 0.6245 | pathogenic | -0.161 | Destabilizing | 1.0 | D | 0.62 | neutral | N | 0.498581755 | None | None | I |
| G/C | 0.8253 | likely_pathogenic | 0.741 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.530323721 | None | None | I |
| G/D | 0.8302 | likely_pathogenic | 0.7712 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.504622142 | None | None | I |
| G/E | 0.8816 | likely_pathogenic | 0.8427 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/F | 0.957 | likely_pathogenic | 0.9359 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9553 | likely_pathogenic | 0.9317 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/I | 0.9206 | likely_pathogenic | 0.8799 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9658 | likely_pathogenic | 0.9443 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/L | 0.9311 | likely_pathogenic | 0.9029 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/M | 0.954 | likely_pathogenic | 0.9294 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/N | 0.8399 | likely_pathogenic | 0.77 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/P | 0.9851 | likely_pathogenic | 0.9732 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/Q | 0.9236 | likely_pathogenic | 0.8894 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/R | 0.9128 | likely_pathogenic | 0.8719 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.503065206 | None | None | I |
| G/S | 0.5099 | ambiguous | 0.4063 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.497314307 | None | None | I |
| G/T | 0.8559 | likely_pathogenic | 0.7614 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.8916 | likely_pathogenic | 0.8362 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.529309763 | None | None | I |
| G/W | 0.9393 | likely_pathogenic | 0.9023 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.947 | likely_pathogenic | 0.9224 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | 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.