Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8866 | 26821;26822;26823 | chr2:178714062;178714061;178714060 | chr2:179578789;179578788;179578787 |
| N2AB | 8549 | 25870;25871;25872 | chr2:178714062;178714061;178714060 | chr2:179578789;179578788;179578787 |
| N2A | 7622 | 23089;23090;23091 | chr2:178714062;178714061;178714060 | chr2:179578789;179578788;179578787 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.024 | N | 0.273 | 0.12 | 0.199424873507 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs2077094217  |
None | 0.477 | N | 0.519 | 0.26 | 0.18274738541 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs2077094217 |
None | 0.477 | N | 0.519 | 0.26 | 0.18274738541 | gnomAD-4.0.0 | 6.5672E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs2077094495 |
None | 0.006 | N | 0.248 | 0.115 | 0.144782658237 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 | 0.1927 | likely_benign | 0.2992 | benign | -0.393 | Destabilizing | 0.645 | D | 0.55 | neutral | N | 0.48342529 | None | None | N |
| D/C | 0.6011 | likely_pathogenic | 0.7311 | pathogenic | -0.228 | Destabilizing | 0.995 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/E | 0.2304 | likely_benign | 0.357 | ambiguous | -0.261 | Destabilizing | 0.024 | N | 0.273 | neutral | N | 0.464698697 | None | None | N |
| D/F | 0.6048 | likely_pathogenic | 0.7486 | pathogenic | -0.035 | Destabilizing | 0.995 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/G | 0.1187 | likely_benign | 0.1657 | benign | -0.623 | Destabilizing | 0.477 | N | 0.519 | neutral | N | 0.508832237 | None | None | N |
| D/H | 0.3089 | likely_benign | 0.4432 | ambiguous | 0.258 | Stabilizing | 0.96 | D | 0.58 | neutral | N | 0.511582404 | None | None | N |
| D/I | 0.5516 | ambiguous | 0.7166 | pathogenic | 0.179 | Stabilizing | 0.945 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/K | 0.4517 | ambiguous | 0.6136 | pathogenic | 0.233 | Stabilizing | 0.547 | D | 0.539 | neutral | None | None | None | None | N |
| D/L | 0.4717 | ambiguous | 0.6407 | pathogenic | 0.179 | Stabilizing | 0.894 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/M | 0.6638 | likely_pathogenic | 0.8111 | pathogenic | 0.204 | Stabilizing | 0.995 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/N | 0.0791 | likely_benign | 0.0873 | benign | -0.302 | Destabilizing | 0.006 | N | 0.248 | neutral | N | 0.489088896 | None | None | N |
| D/P | 0.9384 | likely_pathogenic | 0.9765 | pathogenic | 0.01 | Stabilizing | 0.945 | D | 0.59 | neutral | None | None | None | None | N |
| D/Q | 0.3844 | ambiguous | 0.5617 | ambiguous | -0.215 | Destabilizing | 0.894 | D | 0.532 | neutral | None | None | None | None | N |
| D/R | 0.4401 | ambiguous | 0.6044 | pathogenic | 0.533 | Stabilizing | 0.894 | D | 0.654 | neutral | None | None | None | None | N |
| D/S | 0.133 | likely_benign | 0.1918 | benign | -0.402 | Destabilizing | 0.547 | D | 0.455 | neutral | None | None | None | None | N |
| D/T | 0.3993 | ambiguous | 0.5541 | ambiguous | -0.203 | Destabilizing | 0.894 | D | 0.545 | neutral | None | None | None | None | N |
| D/V | 0.3412 | ambiguous | 0.4956 | ambiguous | 0.01 | Stabilizing | 0.928 | D | 0.707 | prob.neutral | N | 0.487642025 | None | None | N |
| D/W | 0.8448 | likely_pathogenic | 0.9156 | pathogenic | 0.193 | Stabilizing | 0.995 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/Y | 0.2008 | likely_benign | 0.2732 | benign | 0.227 | Stabilizing | 0.993 | D | 0.681 | prob.neutral | D | 0.529775564 | 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.