Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28479 | 85660;85661;85662 | chr2:178560697;178560696;178560695 | chr2:179425424;179425423;179425422 |
| N2AB | 26838 | 80737;80738;80739 | chr2:178560697;178560696;178560695 | chr2:179425424;179425423;179425422 |
| N2A | 25911 | 77956;77957;77958 | chr2:178560697;178560696;178560695 | chr2:179425424;179425423;179425422 |
| N2B | 19414 | 58465;58466;58467 | chr2:178560697;178560696;178560695 | chr2:179425424;179425423;179425422 |
| Novex-1 | 19539 | 58840;58841;58842 | chr2:178560697;178560696;178560695 | chr2:179425424;179425423;179425422 |
| Novex-2 | 19606 | 59041;59042;59043 | chr2:178560697;178560696;178560695 | chr2:179425424;179425423;179425422 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1575615400  |
None | 1.0 | N | 0.793 | 0.463 | 0.31411915649 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8661 | likely_pathogenic | 0.8908 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.550026775 | None | None | I |
| G/C | 0.9481 | likely_pathogenic | 0.9594 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.551294223 | None | None | I |
| G/D | 0.9761 | likely_pathogenic | 0.9844 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.531162052 | None | None | I |
| G/E | 0.9834 | likely_pathogenic | 0.9895 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/F | 0.9951 | likely_pathogenic | 0.9965 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/H | 0.9904 | likely_pathogenic | 0.9936 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/I | 0.9901 | likely_pathogenic | 0.9933 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/K | 0.9856 | likely_pathogenic | 0.9905 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/L | 0.9923 | likely_pathogenic | 0.9944 | pathogenic | -0.391 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/M | 0.9962 | likely_pathogenic | 0.9972 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/N | 0.9881 | likely_pathogenic | 0.9906 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/P | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.9878 | likely_pathogenic | 0.9913 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/R | 0.9374 | likely_pathogenic | 0.9601 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.510019603 | None | None | I |
| G/S | 0.8069 | likely_pathogenic | 0.8584 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.51691891 | None | None | I |
| G/T | 0.973 | likely_pathogenic | 0.979 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/V | 0.9814 | likely_pathogenic | 0.9869 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.539684428 | None | None | I |
| G/W | 0.9762 | likely_pathogenic | 0.9853 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Y | 0.9906 | likely_pathogenic | 0.9934 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.762 | 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.