Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21268 | 64027;64028;64029 | chr2:178587409;178587408;178587407 | chr2:179452136;179452135;179452134 |
| N2AB | 19627 | 59104;59105;59106 | chr2:178587409;178587408;178587407 | chr2:179452136;179452135;179452134 |
| N2A | 18700 | 56323;56324;56325 | chr2:178587409;178587408;178587407 | chr2:179452136;179452135;179452134 |
| N2B | 12203 | 36832;36833;36834 | chr2:178587409;178587408;178587407 | chr2:179452136;179452135;179452134 |
| Novex-1 | 12328 | 37207;37208;37209 | chr2:178587409;178587408;178587407 | chr2:179452136;179452135;179452134 |
| Novex-2 | 12395 | 37408;37409;37410 | chr2:178587409;178587408;178587407 | chr2:179452136;179452135;179452134 |
| 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/E | None | None | 0.997 | N | 0.791 | 0.373 | 0.513617490885 | gnomAD-4.0.0 | 1.60413E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87831E-06 | 0 | 0 |
| G/R | None | None | 0.997 | N | 0.807 | 0.373 | 0.620522651735 | gnomAD-4.0.0 | 6.86558E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01429E-07 | 0 | 0 |
| G/V | None | None | 0.999 | N | 0.832 | 0.362 | 0.741345419295 | gnomAD-4.0.0 | 1.60413E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87831E-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 | 0.3387 | likely_benign | 0.4288 | ambiguous | -0.825 | Destabilizing | 0.995 | D | 0.676 | prob.neutral | N | 0.49438411 | None | None | N |
| G/C | 0.6373 | likely_pathogenic | 0.7422 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/D | 0.8718 | likely_pathogenic | 0.907 | pathogenic | -2.23 | Highly Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | N |
| G/E | 0.8541 | likely_pathogenic | 0.9058 | pathogenic | -2.271 | Highly Destabilizing | 0.997 | D | 0.791 | deleterious | N | 0.508347309 | None | None | N |
| G/F | 0.9275 | likely_pathogenic | 0.9544 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/H | 0.9297 | likely_pathogenic | 0.9577 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/I | 0.905 | likely_pathogenic | 0.9452 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/K | 0.9445 | likely_pathogenic | 0.9684 | pathogenic | -1.235 | Destabilizing | 0.822 | D | 0.579 | neutral | None | None | None | None | N |
| G/L | 0.8277 | likely_pathogenic | 0.889 | pathogenic | -0.517 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.8922 | likely_pathogenic | 0.9332 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/N | 0.829 | likely_pathogenic | 0.8831 | pathogenic | -1.195 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| G/P | 0.9908 | likely_pathogenic | 0.9937 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Q | 0.8736 | likely_pathogenic | 0.9217 | pathogenic | -1.46 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| G/R | 0.8993 | likely_pathogenic | 0.9366 | pathogenic | -0.89 | Destabilizing | 0.997 | D | 0.807 | deleterious | N | 0.50328488 | None | None | N |
| G/S | 0.2381 | likely_benign | 0.2959 | benign | -1.346 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| G/T | 0.7107 | likely_pathogenic | 0.7908 | pathogenic | -1.329 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| G/V | 0.842 | likely_pathogenic | 0.9034 | pathogenic | -0.584 | Destabilizing | 0.999 | D | 0.832 | deleterious | N | 0.510882204 | None | None | N |
| G/W | 0.9219 | likely_pathogenic | 0.9458 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.522656583 | None | None | N |
| G/Y | 0.8998 | likely_pathogenic | 0.9384 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.847 | 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.