Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16376 | 49351;49352;49353 | chr2:178614271;178614270;178614269 | chr2:179478998;179478997;179478996 |
| N2AB | 14735 | 44428;44429;44430 | chr2:178614271;178614270;178614269 | chr2:179478998;179478997;179478996 |
| N2A | 13808 | 41647;41648;41649 | chr2:178614271;178614270;178614269 | chr2:179478998;179478997;179478996 |
| N2B | 7311 | 22156;22157;22158 | chr2:178614271;178614270;178614269 | chr2:179478998;179478997;179478996 |
| Novex-1 | 7436 | 22531;22532;22533 | chr2:178614271;178614270;178614269 | chr2:179478998;179478997;179478996 |
| Novex-2 | 7503 | 22732;22733;22734 | chr2:178614271;178614270;178614269 | chr2:179478998;179478997;179478996 |
| 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/C | rs772152172  |
-0.192 | 1.0 | N | 0.78 | 0.371 | 0.547212138244 | gnomAD-2.1.1 | 3.59E-05 | None | None | None | None | N | None | 0 | 5.67E-05 | None | 0 | 3.11397E-04 | None | 0 | None | 0 | 1.57E-05 | 0 |
| R/C | rs772152172 |
-0.192 | 1.0 | N | 0.78 | 0.371 | 0.547212138244 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95389E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs772152172 |
-0.192 | 1.0 | N | 0.78 | 0.371 | 0.547212138244 | gnomAD-4.0.0 | 1.79842E-05 | None | None | None | None | N | None | 0 | 3.3399E-05 | None | 0 | 1.56838E-04 | None | 3.12666E-05 | 0 | 1.27198E-05 | 1.09823E-05 | 3.20554E-05 |
| R/H | rs746306518 |
-0.518 | 1.0 | N | 0.782 | 0.385 | 0.330331372229 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.63E-05 | None | 0 | None | 0 | 0 | 0 |
| R/H | rs746306518 |
-0.518 | 1.0 | N | 0.782 | 0.385 | 0.330331372229 | gnomAD-4.0.0 | 1.43767E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53113E-05 | None | 0 | 0 | 1.70963E-05 | 0 | 1.65832E-05 |
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 | 0.7551 | likely_pathogenic | 0.7087 | pathogenic | -0.001 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| R/C | 0.5058 | ambiguous | 0.4825 | ambiguous | -0.272 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.47996818 | None | None | N |
| R/D | 0.9325 | likely_pathogenic | 0.9139 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| R/E | 0.7032 | likely_pathogenic | 0.6654 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/F | 0.8842 | likely_pathogenic | 0.8564 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| R/G | 0.7286 | likely_pathogenic | 0.6721 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.483546856 | None | None | N |
| R/H | 0.3495 | ambiguous | 0.3247 | benign | -0.588 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.481150404 | None | None | N |
| R/I | 0.6049 | likely_pathogenic | 0.5568 | ambiguous | 0.245 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| R/K | 0.2318 | likely_benign | 0.2188 | benign | -0.222 | Destabilizing | 0.998 | D | 0.604 | neutral | None | None | None | None | N |
| R/L | 0.516 | ambiguous | 0.4977 | ambiguous | 0.245 | Stabilizing | 1.0 | D | 0.617 | neutral | N | 0.451456569 | None | None | N |
| R/M | 0.6246 | likely_pathogenic | 0.5777 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/N | 0.8913 | likely_pathogenic | 0.8723 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/P | 0.9094 | likely_pathogenic | 0.8802 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.477143137 | None | None | N |
| R/Q | 0.2633 | likely_benign | 0.2489 | benign | -0.151 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/S | 0.8636 | likely_pathogenic | 0.8326 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.467205236 | None | None | N |
| R/T | 0.6549 | likely_pathogenic | 0.6065 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| R/V | 0.6721 | likely_pathogenic | 0.636 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| R/W | 0.5145 | ambiguous | 0.4616 | ambiguous | -0.549 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| R/Y | 0.7709 | likely_pathogenic | 0.7334 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.74 | 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.