Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5337 | 16234;16235;16236 | chr2:178733284;178733283;178733282 | chr2:179598011;179598010;179598009 |
| N2AB | 5020 | 15283;15284;15285 | chr2:178733284;178733283;178733282 | chr2:179598011;179598010;179598009 |
| N2A | 4093 | 12502;12503;12504 | chr2:178733284;178733283;178733282 | chr2:179598011;179598010;179598009 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs752924679  |
-0.699 | 0.999 | N | 0.589 | 0.598 | None | gnomAD-2.1.1 | 6.47E-05 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 1.64355E-04 | None | 0 | 8.68E-05 | 0 |
| N/S | rs752924679 |
-0.699 | 0.999 | N | 0.589 | 0.598 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| N/S | rs752924679 |
-0.699 | 0.999 | N | 0.589 | 0.598 | None | gnomAD-4.0.0 | 7.2581E-05 | None | None | None | None | N | None | 1.0682E-04 | 1.66811E-05 | None | 0 | 4.45991E-05 | None | 0 | 0 | 7.63635E-05 | 7.69874E-05 | 1.4424E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9764 | likely_pathogenic | 0.9807 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| N/C | 0.9287 | likely_pathogenic | 0.9238 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/D | 0.918 | likely_pathogenic | 0.9385 | pathogenic | -1.47 | Destabilizing | 0.999 | D | 0.618 | neutral | D | 0.554563133 | None | None | N |
| N/E | 0.9929 | likely_pathogenic | 0.9944 | pathogenic | -1.4 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| N/F | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| N/G | 0.9328 | likely_pathogenic | 0.9396 | pathogenic | -1.026 | Destabilizing | 0.999 | D | 0.565 | neutral | None | None | None | None | N |
| N/H | 0.9405 | likely_pathogenic | 0.9454 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.544474275 | None | None | N |
| N/I | 0.993 | likely_pathogenic | 0.9949 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.55608407 | None | None | N |
| N/K | 0.9948 | likely_pathogenic | 0.9964 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.555323602 | None | None | N |
| N/L | 0.9733 | likely_pathogenic | 0.9761 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/M | 0.9876 | likely_pathogenic | 0.9894 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/P | 0.9893 | likely_pathogenic | 0.9912 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9926 | likely_pathogenic | 0.9937 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/R | 0.9901 | likely_pathogenic | 0.9924 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| N/S | 0.4502 | ambiguous | 0.465 | ambiguous | -0.823 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.512732309 | None | None | N |
| N/T | 0.8685 | likely_pathogenic | 0.8649 | pathogenic | -0.595 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.511366411 | None | None | N |
| N/V | 0.9832 | likely_pathogenic | 0.9872 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/W | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9876 | likely_pathogenic | 0.9899 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.544474275 | 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.