Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32928 | 99007;99008;99009 | chr2:178539153;178539152;178539151 | chr2:179403880;179403879;179403878 |
| N2AB | 31287 | 94084;94085;94086 | chr2:178539153;178539152;178539151 | chr2:179403880;179403879;179403878 |
| N2A | 30360 | 91303;91304;91305 | chr2:178539153;178539152;178539151 | chr2:179403880;179403879;179403878 |
| N2B | 23863 | 71812;71813;71814 | chr2:178539153;178539152;178539151 | chr2:179403880;179403879;179403878 |
| Novex-1 | 23988 | 72187;72188;72189 | chr2:178539153;178539152;178539151 | chr2:179403880;179403879;179403878 |
| Novex-2 | 24055 | 72388;72389;72390 | chr2:178539153;178539152;178539151 | chr2:179403880;179403879;179403878 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1490449415  |
-0.255 | 1.0 | N | 0.596 | 0.37 | 0.424908009808 | 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 |
| R/G | rs1490449415 |
-0.255 | 1.0 | N | 0.596 | 0.37 | 0.424908009808 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs1490449415 |
-0.255 | 1.0 | N | 0.596 | 0.37 | 0.424908009808 | gnomAD-4.0.0 | 3.8433E-06 | None | None | None | None | N | None | 0 | 5.08526E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7126 | likely_pathogenic | 0.6639 | pathogenic | -0.211 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| R/C | 0.469 | ambiguous | 0.4401 | ambiguous | -0.168 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| R/D | 0.9263 | likely_pathogenic | 0.8959 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| R/E | 0.7774 | likely_pathogenic | 0.6922 | pathogenic | -0.023 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| R/F | 0.8726 | likely_pathogenic | 0.8291 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| R/G | 0.6962 | likely_pathogenic | 0.6419 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.596 | neutral | N | 0.477594971 | None | None | N |
| R/H | 0.2852 | likely_benign | 0.2384 | benign | -0.874 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| R/I | 0.6589 | likely_pathogenic | 0.5984 | pathogenic | 0.293 | Stabilizing | 1.0 | D | 0.657 | neutral | N | 0.496623449 | None | None | N |
| R/K | 0.2003 | likely_benign | 0.1874 | benign | -0.19 | Destabilizing | 0.997 | D | 0.459 | neutral | N | 0.397824679 | None | None | N |
| R/L | 0.5639 | ambiguous | 0.5115 | ambiguous | 0.293 | Stabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| R/M | 0.6869 | likely_pathogenic | 0.6188 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| R/N | 0.8936 | likely_pathogenic | 0.8625 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/P | 0.6404 | likely_pathogenic | 0.5945 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| R/Q | 0.2899 | likely_benign | 0.2429 | benign | 0.016 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/S | 0.8572 | likely_pathogenic | 0.8214 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.46029729 | None | None | N |
| R/T | 0.6718 | likely_pathogenic | 0.6323 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.463702954 | None | None | N |
| R/V | 0.7003 | likely_pathogenic | 0.6291 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| R/W | 0.5203 | ambiguous | 0.4318 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| R/Y | 0.7883 | likely_pathogenic | 0.7208 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.667 | 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.