Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20361 | 61306;61307;61308 | chr2:178590644;178590643;178590642 | chr2:179455371;179455370;179455369 |
| N2AB | 18720 | 56383;56384;56385 | chr2:178590644;178590643;178590642 | chr2:179455371;179455370;179455369 |
| N2A | 17793 | 53602;53603;53604 | chr2:178590644;178590643;178590642 | chr2:179455371;179455370;179455369 |
| N2B | 11296 | 34111;34112;34113 | chr2:178590644;178590643;178590642 | chr2:179455371;179455370;179455369 |
| Novex-1 | 11421 | 34486;34487;34488 | chr2:178590644;178590643;178590642 | chr2:179455371;179455370;179455369 |
| Novex-2 | 11488 | 34687;34688;34689 | chr2:178590644;178590643;178590642 | chr2:179455371;179455370;179455369 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1250284752  |
0.01 | 0.999 | N | 0.591 | 0.163 | 0.17948927462 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs1250284752 |
0.01 | 0.999 | N | 0.591 | 0.163 | 0.17948927462 | gnomAD-4.0.0 | 1.59259E-06 | None | None | None | None | N | None | 0 | 2.28791E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2303 | likely_benign | 0.2271 | benign | -0.301 | Destabilizing | 1.0 | D | 0.739 | deleterious | N | 0.489499902 | None | None | N |
| D/C | 0.7398 | likely_pathogenic | 0.7395 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| D/E | 0.1725 | likely_benign | 0.1811 | benign | -0.412 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.417061014 | None | None | N |
| D/F | 0.6493 | likely_pathogenic | 0.6597 | pathogenic | -0.127 | Destabilizing | 1.0 | D | 0.728 | deleterious | None | None | None | None | N |
| D/G | 0.3366 | likely_benign | 0.3237 | benign | -0.552 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.48174721 | None | None | N |
| D/H | 0.3816 | ambiguous | 0.3942 | ambiguous | -0.192 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.482908765 | None | None | N |
| D/I | 0.3445 | ambiguous | 0.3555 | ambiguous | 0.325 | Stabilizing | 1.0 | D | 0.695 | prob.delet. | None | None | None | None | N |
| D/K | 0.42 | ambiguous | 0.4109 | ambiguous | 0.038 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/L | 0.3721 | ambiguous | 0.3762 | ambiguous | 0.325 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/M | 0.6195 | likely_pathogenic | 0.6503 | pathogenic | 0.494 | Stabilizing | 1.0 | D | 0.721 | deleterious | None | None | None | None | N |
| D/N | 0.1426 | likely_benign | 0.1438 | benign | -0.268 | Destabilizing | 1.0 | D | 0.703 | prob.delet. | N | 0.512646121 | None | None | N |
| D/P | 0.5706 | likely_pathogenic | 0.5744 | pathogenic | 0.14 | Stabilizing | 1.0 | D | 0.739 | deleterious | None | None | None | None | N |
| D/Q | 0.3995 | ambiguous | 0.4198 | ambiguous | -0.198 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| D/R | 0.5091 | ambiguous | 0.5097 | ambiguous | 0.208 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/S | 0.1776 | likely_benign | 0.1786 | benign | -0.407 | Destabilizing | 1.0 | D | 0.72 | deleterious | None | None | None | None | N |
| D/T | 0.3057 | likely_benign | 0.3254 | benign | -0.213 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/V | 0.218 | likely_benign | 0.2242 | benign | 0.14 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.517262507 | None | None | N |
| D/W | 0.9168 | likely_pathogenic | 0.9268 | pathogenic | 0.009 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/Y | 0.2981 | likely_benign | 0.282 | benign | 0.099 | Stabilizing | 1.0 | D | 0.728 | deleterious | N | 0.482148297 | 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.