Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18652 | 56179;56180;56181 | chr2:178600950;178600949;178600948 | chr2:179465677;179465676;179465675 |
| N2AB | 17011 | 51256;51257;51258 | chr2:178600950;178600949;178600948 | chr2:179465677;179465676;179465675 |
| N2A | 16084 | 48475;48476;48477 | chr2:178600950;178600949;178600948 | chr2:179465677;179465676;179465675 |
| N2B | 9587 | 28984;28985;28986 | chr2:178600950;178600949;178600948 | chr2:179465677;179465676;179465675 |
| Novex-1 | 9712 | 29359;29360;29361 | chr2:178600950;178600949;178600948 | chr2:179465677;179465676;179465675 |
| Novex-2 | 9779 | 29560;29561;29562 | chr2:178600950;178600949;178600948 | chr2:179465677;179465676;179465675 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1368338710  |
-1.129 | 1.0 | N | 0.792 | 0.518 | 0.385578977469 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.41E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1368338710 |
-1.129 | 1.0 | N | 0.792 | 0.518 | 0.385578977469 | gnomAD-4.0.0 | 3.18586E-06 | None | None | None | None | N | None | 5.66829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86171E-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 | 0.2514 | likely_benign | 0.2018 | benign | -0.422 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.477861061 | None | None | N |
| G/C | 0.3567 | ambiguous | 0.3295 | benign | -0.948 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.542595533 | None | None | N |
| G/D | 0.1478 | likely_benign | 0.1273 | benign | -0.707 | Destabilizing | 1.0 | D | 0.792 | deleterious | N | 0.476517935 | None | None | N |
| G/E | 0.2528 | likely_benign | 0.2106 | benign | -0.857 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/F | 0.7092 | likely_pathogenic | 0.6415 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/H | 0.4842 | ambiguous | 0.4179 | ambiguous | -0.673 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/I | 0.6581 | likely_pathogenic | 0.5718 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/K | 0.5121 | ambiguous | 0.4477 | ambiguous | -1.032 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/L | 0.622 | likely_pathogenic | 0.5511 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.6161 | likely_pathogenic | 0.5528 | ambiguous | -0.5 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/N | 0.1938 | likely_benign | 0.1645 | benign | -0.672 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/P | 0.9709 | likely_pathogenic | 0.9503 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/Q | 0.4363 | ambiguous | 0.3783 | ambiguous | -0.959 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/R | 0.456 | ambiguous | 0.4083 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.509234179 | None | None | N |
| G/S | 0.1542 | likely_benign | 0.1287 | benign | -0.837 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.484088805 | None | None | N |
| G/T | 0.2952 | likely_benign | 0.2454 | benign | -0.918 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.5008 | ambiguous | 0.4186 | ambiguous | -0.419 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.523984299 | None | None | N |
| G/W | 0.5554 | ambiguous | 0.5132 | ambiguous | -1.175 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| G/Y | 0.5061 | ambiguous | 0.4414 | ambiguous | -0.838 | Destabilizing | 1.0 | D | 0.771 | 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.