Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 986 | 3181;3182;3183 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
| N2AB | 986 | 3181;3182;3183 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
| N2A | 986 | 3181;3182;3183 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
| N2B | 940 | 3043;3044;3045 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
| Novex-1 | 940 | 3043;3044;3045 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
| Novex-2 | 940 | 3043;3044;3045 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
| Novex-3 | 986 | 3181;3182;3183 | chr2:178782950;178782949;178782948 | chr2:179647677;179647676;179647675 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs755373497  |
-1.015 | 1.0 | D | 0.77 | 0.523 | 0.862337548322 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/F | rs755373497 |
-1.015 | 1.0 | D | 0.77 | 0.523 | 0.862337548322 | gnomAD-4.0.0 | 3.18109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85659E-06 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4644 | ambiguous | 0.5451 | ambiguous | -0.475 | Destabilizing | 0.997 | D | 0.466 | neutral | D | 0.528779378 | None | None | N |
| S/C | 0.7856 | likely_pathogenic | 0.8033 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.623207032 | None | None | N |
| S/D | 0.966 | likely_pathogenic | 0.9718 | pathogenic | 0.616 | Stabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | N |
| S/E | 0.9897 | likely_pathogenic | 0.9925 | pathogenic | 0.547 | Stabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| S/F | 0.98 | likely_pathogenic | 0.9862 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.614006007 | None | None | N |
| S/G | 0.4426 | ambiguous | 0.5073 | ambiguous | -0.605 | Destabilizing | 0.999 | D | 0.511 | neutral | None | None | None | None | N |
| S/H | 0.9567 | likely_pathogenic | 0.9589 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| S/I | 0.9835 | likely_pathogenic | 0.9875 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| S/K | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -0.281 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| S/L | 0.8811 | likely_pathogenic | 0.9095 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/M | 0.9397 | likely_pathogenic | 0.9524 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| S/N | 0.8595 | likely_pathogenic | 0.8775 | pathogenic | -0.086 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| S/P | 0.9937 | likely_pathogenic | 0.9947 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.56355013 | None | None | N |
| S/Q | 0.9837 | likely_pathogenic | 0.9877 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| S/R | 0.9943 | likely_pathogenic | 0.9959 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| S/T | 0.5214 | ambiguous | 0.5882 | pathogenic | -0.23 | Destabilizing | 0.999 | D | 0.477 | neutral | D | 0.529782662 | None | None | N |
| S/V | 0.9643 | likely_pathogenic | 0.9738 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/W | 0.9868 | likely_pathogenic | 0.9895 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| S/Y | 0.9697 | likely_pathogenic | 0.9764 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.613886777 | 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.