Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32249 | 96970;96971;96972 | chr2:178543228;178543227;178543226 | chr2:179407955;179407954;179407953 |
| N2AB | 30608 | 92047;92048;92049 | chr2:178543228;178543227;178543226 | chr2:179407955;179407954;179407953 |
| N2A | 29681 | 89266;89267;89268 | chr2:178543228;178543227;178543226 | chr2:179407955;179407954;179407953 |
| N2B | 23184 | 69775;69776;69777 | chr2:178543228;178543227;178543226 | chr2:179407955;179407954;179407953 |
| Novex-1 | 23309 | 70150;70151;70152 | chr2:178543228;178543227;178543226 | chr2:179407955;179407954;179407953 |
| Novex-2 | 23376 | 70351;70352;70353 | chr2:178543228;178543227;178543226 | chr2:179407955;179407954;179407953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs370515456  |
-0.517 | 1.0 | N | 0.751 | 0.562 | 0.743075302769 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| W/R | rs370515456 |
-0.517 | 1.0 | N | 0.751 | 0.562 | 0.743075302769 | gnomAD-4.0.0 | 3.42097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49734E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9843 | likely_pathogenic | 0.9821 | pathogenic | -2.915 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| W/C | 0.9919 | likely_pathogenic | 0.9903 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.521375909 | None | None | I |
| W/D | 0.9948 | likely_pathogenic | 0.9949 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| W/E | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| W/F | 0.5666 | likely_pathogenic | 0.5488 | ambiguous | -1.862 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| W/G | 0.9406 | likely_pathogenic | 0.938 | pathogenic | -3.105 | Highly Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.512221649 | None | None | I |
| W/H | 0.9819 | likely_pathogenic | 0.9816 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| W/I | 0.9822 | likely_pathogenic | 0.9793 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| W/K | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| W/L | 0.9476 | likely_pathogenic | 0.9392 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.504762457 | None | None | I |
| W/M | 0.9828 | likely_pathogenic | 0.9798 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| W/N | 0.9918 | likely_pathogenic | 0.9916 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| W/P | 0.9848 | likely_pathogenic | 0.9846 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| W/Q | 0.9971 | likely_pathogenic | 0.9967 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| W/R | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.51196816 | None | None | I |
| W/S | 0.9698 | likely_pathogenic | 0.9685 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.519854972 | None | None | I |
| W/T | 0.9843 | likely_pathogenic | 0.9834 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| W/V | 0.9785 | likely_pathogenic | 0.9756 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| W/Y | 0.7671 | likely_pathogenic | 0.7599 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.598 | neutral | 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.