Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18292 | 55099;55100;55101 | chr2:178602528;178602527;178602526 | chr2:179467255;179467254;179467253 |
| N2AB | 16651 | 50176;50177;50178 | chr2:178602528;178602527;178602526 | chr2:179467255;179467254;179467253 |
| N2A | 15724 | 47395;47396;47397 | chr2:178602528;178602527;178602526 | chr2:179467255;179467254;179467253 |
| N2B | 9227 | 27904;27905;27906 | chr2:178602528;178602527;178602526 | chr2:179467255;179467254;179467253 |
| Novex-1 | 9352 | 28279;28280;28281 | chr2:178602528;178602527;178602526 | chr2:179467255;179467254;179467253 |
| Novex-2 | 9419 | 28480;28481;28482 | chr2:178602528;178602527;178602526 | chr2:179467255;179467254;179467253 |
| 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 | 0.024 | N | 0.578 | 0.103 | 0.130388298395 | gnomAD-4.0.0 | 1.6117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45756E-05 | 0 |
| G/R | rs377512675  |
-1.219 | 0.055 | N | 0.695 | 0.099 | 0.316494231283 | gnomAD-2.1.1 | 3.81E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.5E-05 | 0 |
| G/R | rs377512675 |
-1.219 | 0.055 | N | 0.695 | 0.099 | 0.316494231283 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| G/R | rs377512675 |
-1.219 | 0.055 | N | 0.695 | 0.099 | 0.316494231283 | gnomAD-4.0.0 | 4.61092E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.12618E-05 | 0 | 3.22051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0585 | likely_benign | 0.0523 | benign | -0.697 | Destabilizing | None | N | 0.104 | neutral | N | 0.362328026 | None | None | N |
| G/C | 0.1173 | likely_benign | 0.1103 | benign | -0.866 | Destabilizing | 0.356 | N | 0.686 | prob.neutral | None | None | None | None | N |
| G/D | 0.3421 | ambiguous | 0.2388 | benign | -1.807 | Destabilizing | 0.072 | N | 0.611 | neutral | None | None | None | None | N |
| G/E | 0.2268 | likely_benign | 0.1691 | benign | -1.739 | Destabilizing | 0.024 | N | 0.578 | neutral | N | 0.362461312 | None | None | N |
| G/F | 0.3564 | ambiguous | 0.2772 | benign | -0.739 | Destabilizing | 0.356 | N | 0.727 | prob.delet. | None | None | None | None | N |
| G/H | 0.3345 | likely_benign | 0.2536 | benign | -1.695 | Destabilizing | 0.628 | D | 0.671 | neutral | None | None | None | None | N |
| G/I | 0.1277 | likely_benign | 0.1159 | benign | 0.083 | Stabilizing | 0.072 | N | 0.686 | prob.neutral | None | None | None | None | N |
| G/K | 0.3678 | ambiguous | 0.2694 | benign | -1.175 | Destabilizing | 0.031 | N | 0.586 | neutral | None | None | None | None | N |
| G/L | 0.1746 | likely_benign | 0.1375 | benign | 0.083 | Stabilizing | 0.016 | N | 0.599 | neutral | None | None | None | None | N |
| G/M | 0.2214 | likely_benign | 0.1873 | benign | -0.033 | Destabilizing | 0.356 | N | 0.685 | prob.neutral | None | None | None | None | N |
| G/N | 0.2623 | likely_benign | 0.1991 | benign | -1.105 | Destabilizing | 0.072 | N | 0.435 | neutral | None | None | None | None | N |
| G/P | 0.9536 | likely_pathogenic | 0.9111 | pathogenic | -0.133 | Destabilizing | 0.072 | N | 0.669 | neutral | None | None | None | None | N |
| G/Q | 0.2654 | likely_benign | 0.1952 | benign | -1.102 | Destabilizing | 0.136 | N | 0.714 | prob.delet. | None | None | None | None | N |
| G/R | 0.2722 | likely_benign | 0.1965 | benign | -1.126 | Destabilizing | 0.055 | N | 0.695 | prob.neutral | N | 0.390917349 | None | None | N |
| G/S | 0.0783 | likely_benign | 0.0698 | benign | -1.382 | Destabilizing | None | N | 0.127 | neutral | None | None | None | None | N |
| G/T | 0.0739 | likely_benign | 0.0671 | benign | -1.226 | Destabilizing | None | N | 0.48 | neutral | None | None | None | None | N |
| G/V | 0.0958 | likely_benign | 0.0886 | benign | -0.133 | Destabilizing | 0.012 | N | 0.599 | neutral | N | 0.398923544 | None | None | N |
| G/W | 0.3801 | ambiguous | 0.3034 | benign | -1.412 | Destabilizing | 0.864 | D | 0.669 | neutral | None | None | None | None | N |
| G/Y | 0.3491 | ambiguous | 0.258 | benign | -0.869 | Destabilizing | 0.356 | N | 0.709 | prob.delet. | 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.