Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29987 | 90184;90185;90186 | chr2:178552941;178552940;178552939 | chr2:179417668;179417667;179417666 |
| N2AB | 28346 | 85261;85262;85263 | chr2:178552941;178552940;178552939 | chr2:179417668;179417667;179417666 |
| N2A | 27419 | 82480;82481;82482 | chr2:178552941;178552940;178552939 | chr2:179417668;179417667;179417666 |
| N2B | 20922 | 62989;62990;62991 | chr2:178552941;178552940;178552939 | chr2:179417668;179417667;179417666 |
| Novex-1 | 21047 | 63364;63365;63366 | chr2:178552941;178552940;178552939 | chr2:179417668;179417667;179417666 |
| Novex-2 | 21114 | 63565;63566;63567 | chr2:178552941;178552940;178552939 | chr2:179417668;179417667;179417666 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/W | None | None | 0.265 | N | 0.482 | 0.271 | 0.270447802918 | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-06 | 0 | 0 |
| C/Y | None | None | 0.994 | N | 0.759 | 0.386 | None | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6572 | likely_pathogenic | 0.614 | pathogenic | -1.634 | Destabilizing | 0.982 | D | 0.593 | neutral | None | None | None | None | N |
| C/D | 0.9441 | likely_pathogenic | 0.9245 | pathogenic | -0.039 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| C/E | 0.9635 | likely_pathogenic | 0.9479 | pathogenic | 0.112 | Stabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| C/F | 0.5742 | likely_pathogenic | 0.4736 | ambiguous | -1.189 | Destabilizing | 0.994 | D | 0.76 | deleterious | N | 0.497017457 | None | None | N |
| C/G | 0.4787 | ambiguous | 0.4427 | ambiguous | -1.954 | Destabilizing | 0.997 | D | 0.759 | deleterious | N | 0.479528177 | None | None | N |
| C/H | 0.8542 | likely_pathogenic | 0.8008 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/I | 0.6122 | likely_pathogenic | 0.5096 | ambiguous | -0.8 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/K | 0.9754 | likely_pathogenic | 0.9604 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| C/L | 0.7115 | likely_pathogenic | 0.6489 | pathogenic | -0.8 | Destabilizing | 0.985 | D | 0.61 | neutral | None | None | None | None | N |
| C/M | 0.805 | likely_pathogenic | 0.7597 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| C/N | 0.7221 | likely_pathogenic | 0.6597 | pathogenic | -0.569 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| C/P | 0.955 | likely_pathogenic | 0.9392 | pathogenic | -1.053 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| C/Q | 0.9062 | likely_pathogenic | 0.8669 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| C/R | 0.8999 | likely_pathogenic | 0.8601 | pathogenic | -0.637 | Destabilizing | 0.999 | D | 0.815 | deleterious | N | 0.509798432 | None | None | N |
| C/S | 0.5121 | ambiguous | 0.4716 | ambiguous | -1.078 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.470604635 | None | None | N |
| C/T | 0.6509 | likely_pathogenic | 0.5973 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/V | 0.5044 | ambiguous | 0.4285 | ambiguous | -1.053 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| C/W | 0.8669 | likely_pathogenic | 0.8137 | pathogenic | -1.237 | Destabilizing | 0.265 | N | 0.482 | neutral | N | 0.503258427 | None | None | N |
| C/Y | 0.6615 | likely_pathogenic | 0.5796 | pathogenic | -1.123 | Destabilizing | 0.994 | D | 0.759 | deleterious | N | 0.475532613 | 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.