Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30154 | 90685;90686;90687 | chr2:178552440;178552439;178552438 | chr2:179417167;179417166;179417165 |
| N2AB | 28513 | 85762;85763;85764 | chr2:178552440;178552439;178552438 | chr2:179417167;179417166;179417165 |
| N2A | 27586 | 82981;82982;82983 | chr2:178552440;178552439;178552438 | chr2:179417167;179417166;179417165 |
| N2B | 21089 | 63490;63491;63492 | chr2:178552440;178552439;178552438 | chr2:179417167;179417166;179417165 |
| Novex-1 | 21214 | 63865;63866;63867 | chr2:178552440;178552439;178552438 | chr2:179417167;179417166;179417165 |
| Novex-2 | 21281 | 64066;64067;64068 | chr2:178552440;178552439;178552438 | chr2:179417167;179417166;179417165 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.721 | 0.434 | 0.756135564722 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/R | None | None | 1.0 | N | 0.729 | 0.424 | 0.57058010678 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.762 | 0.366 | 0.477143196806 | gnomAD-4.0.0 | 1.61884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79658E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1348 | likely_benign | 0.1288 | benign | -1.357 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.528669658 | None | None | N |
| P/C | 0.5982 | likely_pathogenic | 0.6136 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| P/D | 0.6351 | likely_pathogenic | 0.596 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/E | 0.5266 | ambiguous | 0.4958 | ambiguous | -1.271 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/F | 0.6018 | likely_pathogenic | 0.6114 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/G | 0.4073 | ambiguous | 0.3927 | ambiguous | -1.643 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/H | 0.2839 | likely_benign | 0.2988 | benign | -1.172 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.483210794 | None | None | N |
| P/I | 0.3773 | ambiguous | 0.3719 | ambiguous | -0.682 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/K | 0.4281 | ambiguous | 0.4146 | ambiguous | -1.242 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/L | 0.1759 | likely_benign | 0.1814 | benign | -0.682 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.520282248 | None | None | N |
| P/M | 0.4669 | ambiguous | 0.4647 | ambiguous | -0.508 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/N | 0.4459 | ambiguous | 0.4204 | ambiguous | -1.01 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/Q | 0.2745 | likely_benign | 0.2798 | benign | -1.201 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| P/R | 0.2722 | likely_benign | 0.2868 | benign | -0.662 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.498866826 | None | None | N |
| P/S | 0.2131 | likely_benign | 0.2063 | benign | -1.46 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.517721945 | None | None | N |
| P/T | 0.1828 | likely_benign | 0.1745 | benign | -1.378 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.514641568 | None | None | N |
| P/V | 0.29 | likely_benign | 0.2911 | benign | -0.872 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| P/W | 0.7557 | likely_pathogenic | 0.7788 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/Y | 0.5651 | likely_pathogenic | 0.567 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.734 | 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.