Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
| N2AB | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
| N2A | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
| N2B | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
| Novex-1 | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
| Novex-2 | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
| Novex-3 | 84 | 475;476;477 | chr2:178802183;178802182;178802181 | chr2:179666910;179666909;179666908 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1349693054  |
-1.984 | 0.999 | D | 0.615 | 0.615 | 0.45553875121 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | 0.095(TCAP) | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs1349693054 |
-1.984 | 0.999 | D | 0.615 | 0.615 | 0.45553875121 | gnomAD-4.0.0 | 1.59045E-06 | None | None | None | 0.095(TCAP) | N | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs142851233 |
0.259 | 1.0 | D | 0.726 | 0.545 | 0.301122078929 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.504(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.79E-06 | 0 |
| N/K | rs142851233 |
0.259 | 1.0 | D | 0.726 | 0.545 | 0.301122078929 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.504(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs142851233 |
0.259 | 1.0 | D | 0.726 | 0.545 | 0.301122078929 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | -0.504(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| N/S | rs912344670 |
None | 0.999 | D | 0.583 | 0.488 | 0.26169431596 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.098(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs912344670 |
None | 0.999 | D | 0.583 | 0.488 | 0.26169431596 | gnomAD-4.0.0 | 2.47828E-06 | None | None | None | -0.098(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.38981E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9312 | likely_pathogenic | 0.9179 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | -0.137(TCAP) | N |
| N/C | 0.9456 | likely_pathogenic | 0.9296 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | -0.217(TCAP) | N |
| N/D | 0.8687 | likely_pathogenic | 0.8582 | pathogenic | -1.371 | Destabilizing | 0.999 | D | 0.615 | neutral | D | 0.795711965 | None | 0.095(TCAP) | N |
| N/E | 0.9888 | likely_pathogenic | 0.9877 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | -0.076(TCAP) | N |
| N/F | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | -0.673(TCAP) | N |
| N/G | 0.9006 | likely_pathogenic | 0.8769 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.559 | neutral | None | None | None | -0.068(TCAP) | N |
| N/H | 0.9022 | likely_pathogenic | 0.8859 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.79816186 | None | 0.265(TCAP) | N |
| N/I | 0.9631 | likely_pathogenic | 0.9624 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.798916012 | None | -0.414(TCAP) | N |
| N/K | 0.9865 | likely_pathogenic | 0.9843 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.746320772 | None | -0.504(TCAP) | N |
| N/L | 0.9308 | likely_pathogenic | 0.9249 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | -0.414(TCAP) | N |
| N/M | 0.9738 | likely_pathogenic | 0.9709 | pathogenic | 0.72 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | -0.17(TCAP) | N |
| N/P | 0.9825 | likely_pathogenic | 0.9804 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | -0.311(TCAP) | N |
| N/Q | 0.9843 | likely_pathogenic | 0.9822 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | -0.283(TCAP) | N |
| N/R | 0.9764 | likely_pathogenic | 0.9747 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | -0.738(TCAP) | N |
| N/S | 0.3145 | likely_benign | 0.289 | benign | -0.684 | Destabilizing | 0.999 | D | 0.583 | neutral | D | 0.536145565 | None | -0.098(TCAP) | N |
| N/T | 0.7156 | likely_pathogenic | 0.6914 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.730721915 | None | -0.199(TCAP) | N |
| N/V | 0.9456 | likely_pathogenic | 0.9374 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | -0.311(TCAP) | N |
| N/W | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | -0.786(TCAP) | N |
| N/Y | 0.9506 | likely_pathogenic | 0.9478 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.766670733 | None | -0.435(TCAP) | 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.