Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34425 | 103498;103499;103500 | chr2:178533342;178533341;178533340 | chr2:179398069;179398068;179398067 |
| N2AB | 32784 | 98575;98576;98577 | chr2:178533342;178533341;178533340 | chr2:179398069;179398068;179398067 |
| N2A | 31857 | 95794;95795;95796 | chr2:178533342;178533341;178533340 | chr2:179398069;179398068;179398067 |
| N2B | 25360 | 76303;76304;76305 | chr2:178533342;178533341;178533340 | chr2:179398069;179398068;179398067 |
| Novex-1 | 25485 | 76678;76679;76680 | chr2:178533342;178533341;178533340 | chr2:179398069;179398068;179398067 |
| Novex-2 | 25552 | 76879;76880;76881 | chr2:178533342;178533341;178533340 | chr2:179398069;179398068;179398067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs752444322  |
-0.055 | 0.061 | N | 0.191 | 0.145 | 0.0884992946249 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | None | None | 0.134 | N | 0.328 | 0.228 | 0.293502639404 | gnomAD-4.0.0 | 2.05283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47818E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6412 | likely_pathogenic | 0.6965 | pathogenic | -0.355 | Destabilizing | 0.852 | D | 0.359 | neutral | N | 0.508860107 | None | None | N |
| D/C | 0.9206 | likely_pathogenic | 0.9429 | pathogenic | 0.229 | Stabilizing | 0.999 | D | 0.517 | neutral | None | None | None | None | N |
| D/E | 0.4177 | ambiguous | 0.4404 | ambiguous | -0.209 | Destabilizing | 0.061 | N | 0.191 | neutral | N | 0.460220798 | None | None | N |
| D/F | 0.9337 | likely_pathogenic | 0.946 | pathogenic | -0.493 | Destabilizing | 0.997 | D | 0.447 | neutral | None | None | None | None | N |
| D/G | 0.4216 | ambiguous | 0.4472 | ambiguous | -0.528 | Destabilizing | 0.035 | N | 0.241 | neutral | N | 0.501067343 | None | None | N |
| D/H | 0.6646 | likely_pathogenic | 0.7391 | pathogenic | -0.511 | Destabilizing | 0.988 | D | 0.36 | neutral | N | 0.512785846 | None | None | N |
| D/I | 0.9506 | likely_pathogenic | 0.9629 | pathogenic | 0.049 | Stabilizing | 0.997 | D | 0.453 | neutral | None | None | None | None | N |
| D/K | 0.8181 | likely_pathogenic | 0.8613 | pathogenic | 0.377 | Stabilizing | 0.939 | D | 0.297 | neutral | None | None | None | None | N |
| D/L | 0.8967 | likely_pathogenic | 0.9225 | pathogenic | 0.049 | Stabilizing | 0.991 | D | 0.423 | neutral | None | None | None | None | N |
| D/M | 0.96 | likely_pathogenic | 0.9697 | pathogenic | 0.38 | Stabilizing | 0.999 | D | 0.456 | neutral | None | None | None | None | N |
| D/N | 0.208 | likely_benign | 0.2241 | benign | 0.183 | Stabilizing | 0.134 | N | 0.328 | neutral | N | 0.426105437 | None | None | N |
| D/P | 0.9841 | likely_pathogenic | 0.99 | pathogenic | -0.065 | Destabilizing | 0.997 | D | 0.35 | neutral | None | None | None | None | N |
| D/Q | 0.7477 | likely_pathogenic | 0.8021 | pathogenic | 0.196 | Stabilizing | 0.982 | D | 0.342 | neutral | None | None | None | None | N |
| D/R | 0.806 | likely_pathogenic | 0.8628 | pathogenic | 0.368 | Stabilizing | 0.982 | D | 0.401 | neutral | None | None | None | None | N |
| D/S | 0.3899 | ambiguous | 0.4324 | ambiguous | 0.068 | Stabilizing | 0.939 | D | 0.315 | neutral | None | None | None | None | N |
| D/T | 0.7992 | likely_pathogenic | 0.8325 | pathogenic | 0.203 | Stabilizing | 0.939 | D | 0.353 | neutral | None | None | None | None | N |
| D/V | 0.8453 | likely_pathogenic | 0.8838 | pathogenic | -0.065 | Destabilizing | 0.988 | D | 0.425 | neutral | N | 0.492603133 | None | None | N |
| D/W | 0.9798 | likely_pathogenic | 0.986 | pathogenic | -0.409 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | N |
| D/Y | 0.5865 | likely_pathogenic | 0.6504 | pathogenic | -0.274 | Destabilizing | 0.996 | D | 0.447 | neutral | D | 0.530736889 | 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.