Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6211 | 18856;18857;18858 | chr2:178729525;178729524;178729523 | chr2:179594252;179594251;179594250 |
| N2AB | 5894 | 17905;17906;17907 | chr2:178729525;178729524;178729523 | chr2:179594252;179594251;179594250 |
| N2A | 4967 | 15124;15125;15126 | chr2:178729525;178729524;178729523 | chr2:179594252;179594251;179594250 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs773463426  |
-0.57 | 0.999 | N | 0.598 | 0.315 | 0.698733648705 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs773463426 |
-0.57 | 0.999 | N | 0.598 | 0.315 | 0.698733648705 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | N | None | 0 | 2.28749E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1236160546 |
-0.165 | 0.997 | N | 0.512 | 0.268 | 0.714023348238 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1236160546 |
-0.165 | 0.997 | N | 0.512 | 0.268 | 0.714023348238 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1236160546 |
-0.165 | 0.997 | N | 0.512 | 0.268 | 0.714023348238 | gnomAD-4.0.0 | 1.31447E-05 | None | None | None | None | N | None | 4.82462E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.227 | likely_benign | 0.2256 | benign | -0.72 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.512508127 | None | None | N |
| V/C | 0.8463 | likely_pathogenic | 0.8467 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| V/D | 0.3701 | ambiguous | 0.3689 | ambiguous | -0.242 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/E | 0.3005 | likely_benign | 0.2946 | benign | -0.31 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.505870156 | None | None | N |
| V/F | 0.218 | likely_benign | 0.2138 | benign | -0.645 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| V/G | 0.2315 | likely_benign | 0.2291 | benign | -0.918 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.484780957 | None | None | N |
| V/H | 0.7034 | likely_pathogenic | 0.6912 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/I | 0.0897 | likely_benign | 0.0914 | benign | -0.328 | Destabilizing | 0.997 | D | 0.512 | neutral | N | 0.516780583 | None | None | N |
| V/K | 0.4474 | ambiguous | 0.44 | ambiguous | -0.66 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/L | 0.2103 | likely_benign | 0.2177 | benign | -0.328 | Destabilizing | 0.997 | D | 0.591 | neutral | N | 0.469296067 | None | None | N |
| V/M | 0.1816 | likely_benign | 0.1761 | benign | -0.43 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| V/N | 0.3234 | likely_benign | 0.3229 | benign | -0.484 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/P | 0.487 | ambiguous | 0.4653 | ambiguous | -0.422 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/Q | 0.3778 | ambiguous | 0.3693 | ambiguous | -0.664 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/R | 0.4136 | ambiguous | 0.3893 | ambiguous | -0.149 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/S | 0.2509 | likely_benign | 0.2479 | benign | -0.942 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/T | 0.1809 | likely_benign | 0.1887 | benign | -0.9 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| V/W | 0.848 | likely_pathogenic | 0.8546 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6673 | likely_pathogenic | 0.6657 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.643 | 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.