Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
| N2AB | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
| N2A | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
| N2B | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
| Novex-1 | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
| Novex-2 | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
| Novex-3 | 35 | 328;329;330 | chr2:178802330;178802329;178802328 | chr2:179667057;179667056;179667055 |
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/A | rs779420414  |
-2.045 | 1.0 | D | 0.789 | 0.705 | 0.534907319155 | gnomAD-2.1.1 | 1.6E-05 | None | None | None | -0.303(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.30745E-04 | None | 0 | 0 | 0 |
| P/A | rs779420414 |
-2.045 | 1.0 | D | 0.789 | 0.705 | 0.534907319155 | gnomAD-4.0.0 | 6.36349E-06 | None | None | None | -0.303(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.73197E-05 | 0 |
| P/L | rs755605142 |
-0.544 | 1.0 | D | 0.825 | 0.75 | 0.837958248163 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | -0.7(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| P/L | rs755605142 |
-0.544 | 1.0 | D | 0.825 | 0.75 | 0.837958248163 | gnomAD-4.0.0 | 3.18161E-06 | None | None | None | -0.7(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7138E-06 | 0 | 0 |
| P/T | rs779420414 |
-2.156 | 1.0 | D | 0.836 | 0.801 | 0.734031765732 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | -0.325(TCAP) | N | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs779420414 |
-2.156 | 1.0 | D | 0.836 | 0.801 | 0.734031765732 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.325(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs779420414 |
-2.156 | 1.0 | D | 0.836 | 0.801 | 0.734031765732 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | -0.325(TCAP) | N | None | 2.41278E-05 | 0 | None | 0 | 0 | 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 | 0.7278 | likely_pathogenic | 0.6584 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.635534961 | None | -0.303(TCAP) | N |
| P/C | 0.9939 | likely_pathogenic | 0.99 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | -0.968(TCAP) | N |
| P/D | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -1.953 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | -0.946(TCAP) | N |
| P/E | 0.9923 | likely_pathogenic | 0.9883 | pathogenic | -1.842 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -1.114(TCAP) | N |
| P/F | 0.9972 | likely_pathogenic | 0.9964 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -0.625(TCAP) | N |
| P/G | 0.9783 | likely_pathogenic | 0.9665 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | -0.192(TCAP) | N |
| P/H | 0.9933 | likely_pathogenic | 0.9906 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.809493656 | None | 0.044(TCAP) | N |
| P/I | 0.9727 | likely_pathogenic | 0.9643 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | -0.7(TCAP) | N |
| P/K | 0.9967 | likely_pathogenic | 0.9948 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -0.889(TCAP) | N |
| P/L | 0.89 | likely_pathogenic | 0.8671 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.718145751 | None | -0.7(TCAP) | N |
| P/M | 0.9832 | likely_pathogenic | 0.9775 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | -0.978(TCAP) | N |
| P/N | 0.9965 | likely_pathogenic | 0.9945 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | -0.528(TCAP) | N |
| P/Q | 0.9838 | likely_pathogenic | 0.9754 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | -0.658(TCAP) | N |
| P/R | 0.9872 | likely_pathogenic | 0.9823 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.841371091 | None | -0.886(TCAP) | N |
| P/S | 0.9491 | likely_pathogenic | 0.9231 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.788175461 | None | -0.144(TCAP) | N |
| P/T | 0.919 | likely_pathogenic | 0.8884 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.700093313 | None | -0.325(TCAP) | N |
| P/V | 0.9306 | likely_pathogenic | 0.9114 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | -0.559(TCAP) | N |
| P/W | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | -1.011(TCAP) | N |
| P/Y | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | -0.635(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.