Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1109 | 3550;3551;3552 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
| N2AB | 1109 | 3550;3551;3552 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
| N2A | 1109 | 3550;3551;3552 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
| N2B | 1063 | 3412;3413;3414 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
| Novex-1 | 1063 | 3412;3413;3414 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
| Novex-2 | 1063 | 3412;3413;3414 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
| Novex-3 | 1109 | 3550;3551;3552 | chr2:178782267;178782266;178782265 | chr2:179646994;179646993;179646992 |
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/S | rs375285782  |
-0.395 | 1.0 | D | 0.724 | 0.732 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| P/S | rs375285782 |
-0.395 | 1.0 | D | 0.724 | 0.732 | None | gnomAD-4.0.0 | 6.84072E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9517 | likely_pathogenic | 0.9548 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.714092261 | None | None | I |
| P/C | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| P/D | 0.9928 | likely_pathogenic | 0.9928 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| P/E | 0.9815 | likely_pathogenic | 0.9842 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| P/F | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| P/G | 0.9843 | likely_pathogenic | 0.9864 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| P/H | 0.9903 | likely_pathogenic | 0.9917 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/I | 0.9862 | likely_pathogenic | 0.9863 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| P/K | 0.9902 | likely_pathogenic | 0.9926 | pathogenic | -0.9 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| P/L | 0.9692 | likely_pathogenic | 0.9689 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.779338589 | None | None | I |
| P/M | 0.9927 | likely_pathogenic | 0.9933 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/N | 0.992 | likely_pathogenic | 0.9924 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| P/Q | 0.9782 | likely_pathogenic | 0.9829 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.741430198 | None | None | I |
| P/R | 0.9771 | likely_pathogenic | 0.9815 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.798719916 | None | None | I |
| P/S | 0.9806 | likely_pathogenic | 0.9821 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.687309244 | None | None | I |
| P/T | 0.9535 | likely_pathogenic | 0.9592 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.726425274 | None | None | I |
| P/V | 0.9694 | likely_pathogenic | 0.9707 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| P/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| P/Y | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
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.