Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20836 | 62731;62732;62733 | chr2:178589219;178589218;178589217 | chr2:179453946;179453945;179453944 |
| N2AB | 19195 | 57808;57809;57810 | chr2:178589219;178589218;178589217 | chr2:179453946;179453945;179453944 |
| N2A | 18268 | 55027;55028;55029 | chr2:178589219;178589218;178589217 | chr2:179453946;179453945;179453944 |
| N2B | 11771 | 35536;35537;35538 | chr2:178589219;178589218;178589217 | chr2:179453946;179453945;179453944 |
| Novex-1 | 11896 | 35911;35912;35913 | chr2:178589219;178589218;178589217 | chr2:179453946;179453945;179453944 |
| Novex-2 | 11963 | 36112;36113;36114 | chr2:178589219;178589218;178589217 | chr2:179453946;179453945;179453944 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs201693851  |
0.135 | 1.0 | N | 0.719 | 0.381 | None | gnomAD-2.1.1 | 1.03579E-04 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.03182E-04 | 0 |
| R/Q | rs201693851 |
0.135 | 1.0 | N | 0.719 | 0.381 | None | gnomAD-3.1.2 | 1.11801E-04 | None | None | None | None | N | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.91261E-04 | 0 | 0 |
| R/Q | rs201693851 |
0.135 | 1.0 | N | 0.719 | 0.381 | None | gnomAD-4.0.0 | 2.62804E-04 | None | None | None | None | N | None | 1.06823E-04 | 3.33533E-05 | None | 0 | 0 | None | 1.56216E-05 | 0 | 3.44179E-04 | 0 | 1.12093E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9854 | likely_pathogenic | 0.9843 | pathogenic | -0.193 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| R/C | 0.9191 | likely_pathogenic | 0.9259 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| R/D | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/E | 0.9721 | likely_pathogenic | 0.9725 | pathogenic | 0.058 | Stabilizing | 0.999 | D | 0.66 | neutral | None | None | None | None | N |
| R/F | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/G | 0.9806 | likely_pathogenic | 0.9757 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.495561155 | None | None | N |
| R/H | 0.8358 | likely_pathogenic | 0.8225 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/I | 0.9523 | likely_pathogenic | 0.9606 | pathogenic | 0.373 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/K | 0.5607 | ambiguous | 0.5955 | pathogenic | -0.211 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | N |
| R/L | 0.9419 | likely_pathogenic | 0.9402 | pathogenic | 0.373 | Stabilizing | 1.0 | D | 0.602 | neutral | N | 0.507423941 | None | None | N |
| R/M | 0.9804 | likely_pathogenic | 0.9825 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/N | 0.9929 | likely_pathogenic | 0.992 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/P | 0.9812 | likely_pathogenic | 0.9797 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.49033969 | None | None | N |
| R/Q | 0.7812 | likely_pathogenic | 0.785 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.465340126 | None | None | N |
| R/S | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| R/T | 0.9877 | likely_pathogenic | 0.988 | pathogenic | -0.101 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| R/V | 0.9709 | likely_pathogenic | 0.9732 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/W | 0.9415 | likely_pathogenic | 0.9335 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| R/Y | 0.9796 | likely_pathogenic | 0.9773 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | 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.