Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30634 | 92125;92126;92127 | chr2:178549822;178549821;178549820 | chr2:179414549;179414548;179414547 |
| N2AB | 28993 | 87202;87203;87204 | chr2:178549822;178549821;178549820 | chr2:179414549;179414548;179414547 |
| N2A | 28066 | 84421;84422;84423 | chr2:178549822;178549821;178549820 | chr2:179414549;179414548;179414547 |
| N2B | 21569 | 64930;64931;64932 | chr2:178549822;178549821;178549820 | chr2:179414549;179414548;179414547 |
| Novex-1 | 21694 | 65305;65306;65307 | chr2:178549822;178549821;178549820 | chr2:179414549;179414548;179414547 |
| Novex-2 | 21761 | 65506;65507;65508 | chr2:178549822;178549821;178549820 | chr2:179414549;179414548;179414547 |
| 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 | rs376628842  |
-1.956 | 0.059 | N | 0.479 | 0.194 | None | gnomAD-2.1.1 | 8.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| G/E | rs376628842 |
-1.956 | 0.059 | N | 0.479 | 0.194 | None | 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/E | rs376628842 |
-1.956 | 0.059 | N | 0.479 | 0.194 | None | gnomAD-4.0.0 | 3.43771E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.61175E-05 | 0 | 1.61975E-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 | 0.098 | likely_benign | 0.1181 | benign | -0.875 | Destabilizing | 0.046 | N | 0.205 | neutral | N | 0.384972812 | None | None | N |
| G/C | 0.2758 | likely_benign | 0.3393 | benign | -1.292 | Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| G/D | 0.3993 | ambiguous | 0.5057 | ambiguous | -1.761 | Destabilizing | 0.851 | D | 0.541 | neutral | None | None | None | None | N |
| G/E | 0.2814 | likely_benign | 0.4821 | ambiguous | -1.832 | Destabilizing | 0.059 | N | 0.479 | neutral | N | 0.433918765 | None | None | N |
| G/F | 0.8105 | likely_pathogenic | 0.8661 | pathogenic | -1.323 | Destabilizing | 0.996 | D | 0.634 | neutral | None | None | None | None | N |
| G/H | 0.5279 | ambiguous | 0.6308 | pathogenic | -1.25 | Destabilizing | 0.997 | D | 0.591 | neutral | None | None | None | None | N |
| G/I | 0.4817 | ambiguous | 0.5667 | pathogenic | -0.603 | Destabilizing | 0.988 | D | 0.631 | neutral | None | None | None | None | N |
| G/K | 0.3859 | ambiguous | 0.4928 | ambiguous | -1.315 | Destabilizing | 0.851 | D | 0.531 | neutral | None | None | None | None | N |
| G/L | 0.5607 | ambiguous | 0.637 | pathogenic | -0.603 | Destabilizing | 0.976 | D | 0.594 | neutral | None | None | None | None | N |
| G/M | 0.6038 | likely_pathogenic | 0.6707 | pathogenic | -0.519 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| G/N | 0.4034 | ambiguous | 0.4739 | ambiguous | -1.124 | Destabilizing | 0.976 | D | 0.509 | neutral | None | None | None | None | N |
| G/P | 0.6319 | likely_pathogenic | 0.731 | pathogenic | -0.657 | Destabilizing | 0.988 | D | 0.577 | neutral | None | None | None | None | N |
| G/Q | 0.3356 | likely_benign | 0.4277 | ambiguous | -1.399 | Destabilizing | 0.952 | D | 0.585 | neutral | None | None | None | None | N |
| G/R | 0.2653 | likely_benign | 0.368 | ambiguous | -0.907 | Destabilizing | 0.968 | D | 0.575 | neutral | N | 0.475498816 | None | None | N |
| G/S | 0.0998 | likely_benign | 0.1195 | benign | -1.34 | Destabilizing | 0.307 | N | 0.386 | neutral | None | None | None | None | N |
| G/T | 0.2229 | likely_benign | 0.2634 | benign | -1.346 | Destabilizing | 0.851 | D | 0.541 | neutral | None | None | None | None | N |
| G/V | 0.3064 | likely_benign | 0.3834 | ambiguous | -0.657 | Destabilizing | 0.968 | D | 0.597 | neutral | N | 0.473205663 | None | None | N |
| G/W | 0.6086 | likely_pathogenic | 0.7145 | pathogenic | -1.585 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.479789029 | None | None | N |
| G/Y | 0.6488 | likely_pathogenic | 0.74 | pathogenic | -1.205 | Destabilizing | 0.996 | D | 0.629 | neutral | 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.