Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21620 | 65083;65084;65085 | chr2:178584783;178584782;178584781 | chr2:179449510;179449509;179449508 |
| N2AB | 19979 | 60160;60161;60162 | chr2:178584783;178584782;178584781 | chr2:179449510;179449509;179449508 |
| N2A | 19052 | 57379;57380;57381 | chr2:178584783;178584782;178584781 | chr2:179449510;179449509;179449508 |
| N2B | 12555 | 37888;37889;37890 | chr2:178584783;178584782;178584781 | chr2:179449510;179449509;179449508 |
| Novex-1 | 12680 | 38263;38264;38265 | chr2:178584783;178584782;178584781 | chr2:179449510;179449509;179449508 |
| Novex-2 | 12747 | 38464;38465;38466 | chr2:178584783;178584782;178584781 | chr2:179449510;179449509;179449508 |
| 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/K | rs776516784  |
-0.101 | 0.997 | N | 0.506 | 0.337 | 0.355242300401 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 1.73873E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/K | rs776516784 |
-0.101 | 0.997 | N | 0.506 | 0.337 | 0.355242300401 | gnomAD-4.0.0 | 9.55122E-06 | None | None | None | None | N | None | 0 | 1.37212E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs373713828 |
-0.327 | 1.0 | N | 0.787 | 0.336 | 0.283761946502 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/S | rs373713828 |
-0.327 | 1.0 | N | 0.787 | 0.336 | 0.283761946502 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| R/S | rs373713828 |
-0.327 | 1.0 | N | 0.787 | 0.336 | 0.283761946502 | gnomAD-4.0.0 | 6.84321E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99612E-07 | 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 | 0.8373 | likely_pathogenic | 0.8487 | pathogenic | -0.406 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| R/C | 0.3954 | ambiguous | 0.4352 | ambiguous | -0.297 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| R/D | 0.948 | likely_pathogenic | 0.9514 | pathogenic | -0.132 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| R/E | 0.8163 | likely_pathogenic | 0.8326 | pathogenic | -0.058 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| R/F | 0.8371 | likely_pathogenic | 0.8518 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| R/G | 0.7762 | likely_pathogenic | 0.7902 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.469647264 | None | None | N |
| R/H | 0.1808 | likely_benign | 0.2069 | benign | -1.081 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| R/I | 0.5887 | likely_pathogenic | 0.6223 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| R/K | 0.1771 | likely_benign | 0.1729 | benign | -0.424 | Destabilizing | 0.997 | D | 0.506 | neutral | N | 0.403097213 | None | None | N |
| R/L | 0.5701 | likely_pathogenic | 0.5894 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| R/M | 0.6556 | likely_pathogenic | 0.6761 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.781 | deleterious | N | 0.466329128 | None | None | N |
| R/N | 0.9022 | likely_pathogenic | 0.9085 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| R/P | 0.885 | likely_pathogenic | 0.8837 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/Q | 0.2307 | likely_benign | 0.2586 | benign | -0.141 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/S | 0.8819 | likely_pathogenic | 0.8895 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.489638762 | None | None | N |
| R/T | 0.6586 | likely_pathogenic | 0.6898 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.411076404 | None | None | N |
| R/V | 0.6885 | likely_pathogenic | 0.7084 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| R/W | 0.3622 | ambiguous | 0.4197 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.501830076 | None | None | N |
| R/Y | 0.6763 | likely_pathogenic | 0.7182 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.793 | deleterious | 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.