Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28064 | 84415;84416;84417 | chr2:178561942;178561941;178561940 | chr2:179426669;179426668;179426667 |
| N2AB | 26423 | 79492;79493;79494 | chr2:178561942;178561941;178561940 | chr2:179426669;179426668;179426667 |
| N2A | 25496 | 76711;76712;76713 | chr2:178561942;178561941;178561940 | chr2:179426669;179426668;179426667 |
| N2B | 18999 | 57220;57221;57222 | chr2:178561942;178561941;178561940 | chr2:179426669;179426668;179426667 |
| Novex-1 | 19124 | 57595;57596;57597 | chr2:178561942;178561941;178561940 | chr2:179426669;179426668;179426667 |
| Novex-2 | 19191 | 57796;57797;57798 | chr2:178561942;178561941;178561940 | chr2:179426669;179426668;179426667 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1366264826  |
-1.963 | 0.801 | N | 0.564 | 0.36 | 0.647029427368 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.68312E-04 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1366264826 |
-1.963 | 0.801 | N | 0.564 | 0.36 | 0.647029427368 | gnomAD-4.0.0 | 3.42178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.26333E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3618 | ambiguous | 0.2813 | benign | -1.992 | Destabilizing | 0.525 | D | 0.534 | neutral | None | None | None | None | N |
| I/C | 0.6798 | likely_pathogenic | 0.6537 | pathogenic | -1.47 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| I/D | 0.8961 | likely_pathogenic | 0.7899 | pathogenic | -1.181 | Destabilizing | 0.991 | D | 0.659 | neutral | None | None | None | None | N |
| I/E | 0.7617 | likely_pathogenic | 0.6282 | pathogenic | -1.089 | Destabilizing | 0.974 | D | 0.652 | neutral | None | None | None | None | N |
| I/F | 0.1313 | likely_benign | 0.1181 | benign | -1.27 | Destabilizing | 0.934 | D | 0.59 | neutral | N | 0.435228274 | None | None | N |
| I/G | 0.8152 | likely_pathogenic | 0.6963 | pathogenic | -2.415 | Highly Destabilizing | 0.974 | D | 0.656 | neutral | None | None | None | None | N |
| I/H | 0.7256 | likely_pathogenic | 0.6127 | pathogenic | -1.585 | Destabilizing | 0.998 | D | 0.649 | neutral | None | None | None | None | N |
| I/K | 0.587 | likely_pathogenic | 0.4193 | ambiguous | -1.39 | Destabilizing | 0.974 | D | 0.655 | neutral | None | None | None | None | N |
| I/L | 0.1246 | likely_benign | 0.1141 | benign | -0.855 | Destabilizing | 0.005 | N | 0.242 | neutral | N | 0.497431526 | None | None | N |
| I/M | 0.083 | likely_benign | 0.0775 | benign | -0.777 | Destabilizing | 0.267 | N | 0.471 | neutral | N | 0.472333517 | None | None | N |
| I/N | 0.5765 | likely_pathogenic | 0.4161 | ambiguous | -1.378 | Destabilizing | 0.989 | D | 0.669 | neutral | N | 0.507327486 | None | None | N |
| I/P | 0.7149 | likely_pathogenic | 0.6478 | pathogenic | -1.205 | Destabilizing | 0.991 | D | 0.662 | neutral | None | None | None | None | N |
| I/Q | 0.637 | likely_pathogenic | 0.5077 | ambiguous | -1.411 | Destabilizing | 0.974 | D | 0.671 | neutral | None | None | None | None | N |
| I/R | 0.4873 | ambiguous | 0.3353 | benign | -0.93 | Destabilizing | 0.974 | D | 0.665 | neutral | None | None | None | None | N |
| I/S | 0.4876 | ambiguous | 0.3612 | ambiguous | -2.157 | Highly Destabilizing | 0.966 | D | 0.622 | neutral | N | 0.47842313 | None | None | N |
| I/T | 0.2001 | likely_benign | 0.1425 | benign | -1.922 | Destabilizing | 0.801 | D | 0.564 | neutral | N | 0.486082906 | None | None | N |
| I/V | 0.0757 | likely_benign | 0.0722 | benign | -1.205 | Destabilizing | 0.005 | N | 0.219 | neutral | N | 0.407134809 | None | None | N |
| I/W | 0.7119 | likely_pathogenic | 0.6838 | pathogenic | -1.384 | Destabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | N |
| I/Y | 0.5627 | ambiguous | 0.4838 | ambiguous | -1.145 | Destabilizing | 0.991 | D | 0.604 | 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.