Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2392 | 7399;7400;7401 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
| N2AB | 2392 | 7399;7400;7401 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
| N2A | 2392 | 7399;7400;7401 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
| N2B | 2346 | 7261;7262;7263 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
| Novex-1 | 2346 | 7261;7262;7263 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
| Novex-2 | 2346 | 7261;7262;7263 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
| Novex-3 | 2392 | 7399;7400;7401 | chr2:178773994;178773993;178773992 | chr2:179638721;179638720;179638719 |
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 | rs4894048  |
-0.465 | 0.992 | D | 0.333 | 0.571 | None | gnomAD-2.1.1 | 6.77589E-02 | None | None | None | None | N | None | 9.35647E-02 | 1.86914E-01 | None | 3.37068E-02 | 1.8974E-02 | None | 1.52349E-01 | None | 5.5821E-02 | 2.31968E-02 | 5.51858E-02 |
| G/S | rs4894048 |
-0.465 | 0.992 | D | 0.333 | 0.571 | None | gnomAD-3.1.2 | 5.95038E-02 | None | None | None | None | N | None | 9.19921E-02 | 1.38838E-01 | 0 | 3.14121E-02 | 1.6185E-02 | None | 5.7852E-02 | 2.8481E-02 | 2.22794E-02 | 1.46387E-01 | 4.1587E-02 |
| G/S | rs4894048 |
-0.465 | 0.992 | D | 0.333 | 0.571 | None | 1000 genomes | 8.74601E-02 | None | None | None | None | N | None | 9.15E-02 | 1.599E-01 | None | None | 1.49E-02 | 3.58E-02 | None | None | None | 1.585E-01 | None |
| G/S | rs4894048 |
-0.465 | 0.992 | D | 0.333 | 0.571 | None | gnomAD-4.0.0 | 4.05323E-02 | None | None | None | None | N | None | 9.24513E-02 | 1.72702E-01 | None | 3.34054E-02 | 1.023E-02 | None | 5.74388E-02 | 4.63543E-02 | 2.25323E-02 | 1.47326E-01 | 4.34678E-02 |
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 | 0.3002 | likely_benign | 0.2918 | benign | -0.226 | Destabilizing | 0.992 | D | 0.425 | neutral | D | 0.644402541 | None | None | N |
| G/C | 0.3657 | ambiguous | 0.359 | ambiguous | -0.824 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.738392814 | None | None | N |
| G/D | 0.1862 | likely_benign | 0.1882 | benign | -0.79 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | D | 0.638812102 | None | None | N |
| G/E | 0.2483 | likely_benign | 0.2466 | benign | -0.969 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/F | 0.7522 | likely_pathogenic | 0.7474 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/H | 0.4067 | ambiguous | 0.3894 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/I | 0.6216 | likely_pathogenic | 0.6189 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| G/K | 0.4096 | ambiguous | 0.3896 | ambiguous | -0.723 | Destabilizing | 0.999 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/L | 0.6759 | likely_pathogenic | 0.6646 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/M | 0.6474 | likely_pathogenic | 0.6401 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/N | 0.2152 | likely_benign | 0.2104 | benign | -0.352 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/P | 0.9854 | likely_pathogenic | 0.9847 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/Q | 0.295 | likely_benign | 0.2749 | benign | -0.685 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/R | 0.3078 | likely_benign | 0.2883 | benign | -0.226 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.739867336 | None | None | N |
| G/S | 0.1174 | likely_benign | 0.1342 | benign | -0.437 | Destabilizing | 0.992 | D | 0.333 | neutral | D | 0.68315011 | None | None | N |
| G/T | 0.3363 | likely_benign | 0.3236 | benign | -0.56 | Destabilizing | 0.91 | D | 0.393 | neutral | None | None | None | None | N |
| G/V | 0.5389 | ambiguous | 0.5367 | ambiguous | -0.37 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | D | 0.738392814 | None | None | N |
| G/W | 0.6485 | likely_pathogenic | 0.6521 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5931 | likely_pathogenic | 0.5902 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.752 | deleterious | 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.