Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25011 | 75256;75257;75258 | chr2:178571101;178571100;178571099 | chr2:179435828;179435827;179435826 |
| N2AB | 23370 | 70333;70334;70335 | chr2:178571101;178571100;178571099 | chr2:179435828;179435827;179435826 |
| N2A | 22443 | 67552;67553;67554 | chr2:178571101;178571100;178571099 | chr2:179435828;179435827;179435826 |
| N2B | 15946 | 48061;48062;48063 | chr2:178571101;178571100;178571099 | chr2:179435828;179435827;179435826 |
| Novex-1 | 16071 | 48436;48437;48438 | chr2:178571101;178571100;178571099 | chr2:179435828;179435827;179435826 |
| Novex-2 | 16138 | 48637;48638;48639 | chr2:178571101;178571100;178571099 | chr2:179435828;179435827;179435826 |
| 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/A | None | None | 1.0 | N | 0.647 | 0.387 | 0.374255764437 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 0 |
| G/E | rs1267255162  |
-1.867 | 1.0 | N | 0.871 | 0.448 | 0.542007956216 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1267255162 |
-1.867 | 1.0 | N | 0.871 | 0.448 | 0.542007956216 | gnomAD-4.0.0 | 3.18384E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.53652E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1448093257 |
-1.087 | 1.0 | N | 0.858 | 0.489 | 0.686066944425 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1448093257 |
-1.087 | 1.0 | N | 0.858 | 0.489 | 0.686066944425 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1448093257 |
-1.087 | 1.0 | N | 0.858 | 0.489 | 0.686066944425 | gnomAD-4.0.0 | 6.57505E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3794 | ambiguous | 0.3168 | benign | -0.812 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.488903608 | None | None | N |
| G/C | 0.5597 | ambiguous | 0.4684 | ambiguous | -0.99 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/D | 0.7234 | likely_pathogenic | 0.6315 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/E | 0.6354 | likely_pathogenic | 0.5025 | ambiguous | -2.123 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.471062389 | None | None | N |
| G/F | 0.9188 | likely_pathogenic | 0.8828 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/H | 0.8633 | likely_pathogenic | 0.793 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/I | 0.8466 | likely_pathogenic | 0.7655 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/K | 0.8866 | likely_pathogenic | 0.8079 | pathogenic | -1.461 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/L | 0.7974 | likely_pathogenic | 0.7156 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/M | 0.8355 | likely_pathogenic | 0.7658 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/N | 0.7239 | likely_pathogenic | 0.6567 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/P | 0.9823 | likely_pathogenic | 0.977 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/Q | 0.7333 | likely_pathogenic | 0.6227 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.7878 | likely_pathogenic | 0.6797 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.495838914 | None | None | N |
| G/S | 0.1973 | likely_benign | 0.1692 | benign | -1.585 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/T | 0.43 | ambiguous | 0.3593 | ambiguous | -1.443 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/V | 0.7074 | likely_pathogenic | 0.6065 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.486296716 | None | None | N |
| G/W | 0.8811 | likely_pathogenic | 0.8268 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.879 | likely_pathogenic | 0.823 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.849 | 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.