Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26601 | 80026;80027;80028 | chr2:178566331;178566330;178566329 | chr2:179431058;179431057;179431056 |
| N2AB | 24960 | 75103;75104;75105 | chr2:178566331;178566330;178566329 | chr2:179431058;179431057;179431056 |
| N2A | 24033 | 72322;72323;72324 | chr2:178566331;178566330;178566329 | chr2:179431058;179431057;179431056 |
| N2B | 17536 | 52831;52832;52833 | chr2:178566331;178566330;178566329 | chr2:179431058;179431057;179431056 |
| Novex-1 | 17661 | 53206;53207;53208 | chr2:178566331;178566330;178566329 | chr2:179431058;179431057;179431056 |
| Novex-2 | 17728 | 53407;53408;53409 | chr2:178566331;178566330;178566329 | chr2:179431058;179431057;179431056 |
| 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/A | None | None | 0.991 | N | 0.539 | 0.376 | 0.268211541103 | gnomAD-4.0.0 | 3.18326E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71765E-06 | 0 | 0 |
| G/R | rs773632027  |
-0.268 | 0.997 | N | 0.775 | 0.452 | 0.476051820916 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 1.15922E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs773632027 |
-0.268 | 0.997 | N | 0.775 | 0.452 | 0.476051820916 | gnomAD-4.0.0 | 6.36661E-06 | None | None | None | None | I | None | 0 | 9.14662E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.262 | likely_benign | 0.2385 | benign | -0.588 | Destabilizing | 0.991 | D | 0.539 | neutral | N | 0.430272666 | None | None | I |
| G/C | 0.3967 | ambiguous | 0.3804 | ambiguous | -0.955 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/D | 0.8434 | likely_pathogenic | 0.785 | pathogenic | -0.854 | Destabilizing | 0.996 | D | 0.707 | prob.neutral | None | None | None | None | I |
| G/E | 0.7702 | likely_pathogenic | 0.6933 | pathogenic | -0.958 | Destabilizing | 0.652 | D | 0.569 | neutral | N | 0.458035271 | None | None | I |
| G/F | 0.8654 | likely_pathogenic | 0.8514 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/H | 0.8676 | likely_pathogenic | 0.8403 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/I | 0.5736 | likely_pathogenic | 0.5405 | ambiguous | -0.401 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/K | 0.9501 | likely_pathogenic | 0.928 | pathogenic | -1.228 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | I |
| G/L | 0.7549 | likely_pathogenic | 0.7412 | pathogenic | -0.401 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | I |
| G/M | 0.685 | likely_pathogenic | 0.6633 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| G/N | 0.6188 | likely_pathogenic | 0.5958 | pathogenic | -0.85 | Destabilizing | 0.998 | D | 0.722 | prob.delet. | None | None | None | None | I |
| G/P | 0.9906 | likely_pathogenic | 0.9878 | pathogenic | -0.423 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Q | 0.7957 | likely_pathogenic | 0.7538 | pathogenic | -1.063 | Destabilizing | 0.996 | D | 0.775 | deleterious | None | None | None | None | I |
| G/R | 0.9004 | likely_pathogenic | 0.8596 | pathogenic | -0.872 | Destabilizing | 0.997 | D | 0.775 | deleterious | N | 0.467886905 | None | None | I |
| G/S | 0.2244 | likely_benign | 0.2062 | benign | -1.071 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/T | 0.3122 | likely_benign | 0.2944 | benign | -1.095 | Destabilizing | 0.998 | D | 0.762 | deleterious | None | None | None | None | I |
| G/V | 0.3981 | ambiguous | 0.3711 | ambiguous | -0.423 | Destabilizing | 0.999 | D | 0.769 | deleterious | N | 0.449031785 | None | None | I |
| G/W | 0.8215 | likely_pathogenic | 0.7932 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| G/Y | 0.7876 | likely_pathogenic | 0.7546 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.755 | 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.