Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
| N2AB | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
| N2A | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
| N2B | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
| Novex-1 | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
| Novex-2 | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
| Novex-3 | 31 | 316;317;318 | chr2:178804552;178802341;178802340 | chr2:179669279;179667068;179667067 |
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 | D | 0.849 | None | 0.646441920909 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | -1.557(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7351 | likely_pathogenic | 0.5614 | ambiguous | -0.46 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.609368847 | None | -0.919(TCAP) | N |
| G/C | 0.9647 | likely_pathogenic | 0.9235 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.7154273 | None | -1.146(TCAP) | N |
| G/D | 0.984 | likely_pathogenic | 0.9672 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.816609315 | None | -1.557(TCAP) | N |
| G/E | 0.9908 | likely_pathogenic | 0.9806 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | -1.735(TCAP) | N |
| G/F | 0.997 | likely_pathogenic | 0.9927 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | -1.097(TCAP) | N |
| G/H | 0.9967 | likely_pathogenic | 0.9919 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | -1.072(TCAP) | N |
| G/I | 0.983 | likely_pathogenic | 0.9634 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | -1.412(TCAP) | N |
| G/K | 0.9977 | likely_pathogenic | 0.9948 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | -2.113(TCAP) | N |
| G/L | 0.9921 | likely_pathogenic | 0.9817 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | -1.412(TCAP) | N |
| G/M | 0.9973 | likely_pathogenic | 0.9926 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | -1.05(TCAP) | N |
| G/N | 0.9883 | likely_pathogenic | 0.9729 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | -1.482(TCAP) | N |
| G/P | 0.998 | likely_pathogenic | 0.9959 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | -1.243(TCAP) | N |
| G/Q | 0.994 | likely_pathogenic | 0.9859 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | -1.566(TCAP) | N |
| G/R | 0.9876 | likely_pathogenic | 0.975 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.848249181 | None | -2.414(TCAP) | N |
| G/S | 0.6747 | likely_pathogenic | 0.5016 | ambiguous | -0.821 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.68542212 | None | -1.118(TCAP) | N |
| G/T | 0.9466 | likely_pathogenic | 0.8838 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | -1.314(TCAP) | N |
| G/V | 0.9579 | likely_pathogenic | 0.9134 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.795928919 | None | -1.243(TCAP) | N |
| G/W | 0.9937 | likely_pathogenic | 0.9879 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | -1.252(TCAP) | N |
| G/Y | 0.9961 | likely_pathogenic | 0.9904 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | -1.093(TCAP) | 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.