Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33061 | 99406;99407;99408 | chr2:178538648;178538647;178538646 | chr2:179403375;179403374;179403373 |
| N2AB | 31420 | 94483;94484;94485 | chr2:178538648;178538647;178538646 | chr2:179403375;179403374;179403373 |
| N2A | 30493 | 91702;91703;91704 | chr2:178538648;178538647;178538646 | chr2:179403375;179403374;179403373 |
| N2B | 23996 | 72211;72212;72213 | chr2:178538648;178538647;178538646 | chr2:179403375;179403374;179403373 |
| Novex-1 | 24121 | 72586;72587;72588 | chr2:178538648;178538647;178538646 | chr2:179403375;179403374;179403373 |
| Novex-2 | 24188 | 72787;72788;72789 | chr2:178538648;178538647;178538646 | chr2:179403375;179403374;179403373 |
| 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 | rs760665075  |
0.094 | 1.0 | N | 0.747 | 0.414 | 0.454331543959 | gnomAD-4.0.0 | 2.05264E-06 | None | None | None | None | N | None | 0 | 6.70781E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs2154139241 |
None | 1.0 | N | 0.725 | 0.455 | 0.616319364264 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| G/V | rs760665075 |
None | 1.0 | N | 0.765 | 0.407 | 0.675944014053 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs760665075 |
None | 1.0 | N | 0.765 | 0.407 | 0.675944014053 | gnomAD-4.0.0 | 1.23939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4762E-07 | 0 | 1.60108E-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 | 0.1146 | likely_benign | 0.1197 | benign | -0.403 | Destabilizing | 1.0 | D | 0.574 | neutral | N | 0.447176064 | None | None | N |
| G/C | 0.2402 | likely_benign | 0.2536 | benign | -0.949 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/D | 0.4473 | ambiguous | 0.4471 | ambiguous | -0.108 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/E | 0.4093 | ambiguous | 0.4202 | ambiguous | -0.205 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.420200106 | None | None | N |
| G/F | 0.6623 | likely_pathogenic | 0.7042 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/H | 0.5186 | ambiguous | 0.5442 | ambiguous | -0.689 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/I | 0.3519 | ambiguous | 0.3686 | ambiguous | -0.267 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/K | 0.5672 | likely_pathogenic | 0.5699 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/L | 0.4568 | ambiguous | 0.4873 | ambiguous | -0.267 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| G/M | 0.5243 | ambiguous | 0.5544 | ambiguous | -0.472 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/N | 0.372 | ambiguous | 0.3772 | ambiguous | -0.513 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| G/P | 0.5726 | likely_pathogenic | 0.6121 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| G/Q | 0.4468 | ambiguous | 0.4636 | ambiguous | -0.655 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/R | 0.4104 | ambiguous | 0.4335 | ambiguous | -0.495 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.448272142 | None | None | N |
| G/S | 0.0967 | likely_benign | 0.0999 | benign | -0.815 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| G/T | 0.1512 | likely_benign | 0.14 | benign | -0.805 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/V | 0.2303 | likely_benign | 0.2461 | benign | -0.274 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.460374648 | None | None | N |
| G/W | 0.563 | ambiguous | 0.6181 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5771 | likely_pathogenic | 0.6221 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.747 | 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.