Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20049 | 60370;60371;60372 | chr2:178591674;178591673;178591672 | chr2:179456401;179456400;179456399 |
| N2AB | 18408 | 55447;55448;55449 | chr2:178591674;178591673;178591672 | chr2:179456401;179456400;179456399 |
| N2A | 17481 | 52666;52667;52668 | chr2:178591674;178591673;178591672 | chr2:179456401;179456400;179456399 |
| N2B | 10984 | 33175;33176;33177 | chr2:178591674;178591673;178591672 | chr2:179456401;179456400;179456399 |
| Novex-1 | 11109 | 33550;33551;33552 | chr2:178591674;178591673;178591672 | chr2:179456401;179456400;179456399 |
| Novex-2 | 11176 | 33751;33752;33753 | chr2:178591674;178591673;178591672 | chr2:179456401;179456400;179456399 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs748606401  |
-1.57 | 1.0 | D | 0.799 | 0.505 | 0.714984421374 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.0574E-04 | None | 1.30736E-04 | None | 0 | 7.82E-06 | 0 |
| R/C | rs748606401 |
-1.57 | 1.0 | D | 0.799 | 0.505 | 0.714984421374 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| R/C | rs748606401 |
-1.57 | 1.0 | D | 0.799 | 0.505 | 0.714984421374 | gnomAD-4.0.0 | 1.85965E-05 | None | None | None | None | N | None | 1.33611E-05 | 0 | None | 0 | 2.23214E-05 | None | 0 | 1.64582E-04 | 4.23887E-06 | 2.30668E-04 | 1.60133E-05 |
| R/H | rs200455644 |
-2.143 | 1.0 | D | 0.815 | 0.429 | None | gnomAD-2.1.1 | 1.143E-04 | None | None | None | None | N | None | 8.27E-05 | 1.41579E-04 | None | 9.67E-05 | 0 | None | 0 | None | 4E-05 | 1.7198E-04 | 1.40449E-04 |
| R/H | rs200455644 |
-2.143 | 1.0 | D | 0.815 | 0.429 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 4.83E-05 | 2.62364E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.02959E-04 | 0 | 0 |
| R/H | rs200455644 |
-2.143 | 1.0 | D | 0.815 | 0.429 | None | gnomAD-4.0.0 | 1.01655E-04 | None | None | None | None | N | None | 2.67094E-05 | 2.50234E-04 | None | 1.01372E-04 | 2.23204E-04 | None | 1.56211E-05 | 0 | 1.05123E-04 | 1.09827E-05 | 1.28115E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9374 | likely_pathogenic | 0.9502 | pathogenic | -1.708 | Destabilizing | 0.999 | D | 0.604 | neutral | None | None | None | None | N |
| R/C | 0.438 | ambiguous | 0.5093 | ambiguous | -1.641 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.523131244 | None | None | N |
| R/D | 0.996 | likely_pathogenic | 0.9976 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| R/E | 0.9174 | likely_pathogenic | 0.943 | pathogenic | -0.772 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| R/F | 0.9709 | likely_pathogenic | 0.9851 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| R/G | 0.9511 | likely_pathogenic | 0.9668 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.54575495 | None | None | N |
| R/H | 0.347 | ambiguous | 0.4817 | ambiguous | -1.956 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.523131244 | None | None | N |
| R/I | 0.853 | likely_pathogenic | 0.9026 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/K | 0.4324 | ambiguous | 0.5541 | ambiguous | -1.184 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | N |
| R/L | 0.8382 | likely_pathogenic | 0.9001 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.505026989 | None | None | N |
| R/M | 0.8618 | likely_pathogenic | 0.9127 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/N | 0.9792 | likely_pathogenic | 0.9855 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.546261929 | None | None | N |
| R/Q | 0.245 | likely_benign | 0.2958 | benign | -1.002 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/S | 0.9588 | likely_pathogenic | 0.9697 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.506251076 | None | None | N |
| R/T | 0.9148 | likely_pathogenic | 0.9478 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| R/V | 0.8821 | likely_pathogenic | 0.9156 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/W | 0.6871 | likely_pathogenic | 0.8078 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| R/Y | 0.9269 | likely_pathogenic | 0.9614 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.814 | 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.