Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20222 | 60889;60890;60891 | chr2:178591061;178591060;178591059 | chr2:179455788;179455787;179455786 |
| N2AB | 18581 | 55966;55967;55968 | chr2:178591061;178591060;178591059 | chr2:179455788;179455787;179455786 |
| N2A | 17654 | 53185;53186;53187 | chr2:178591061;178591060;178591059 | chr2:179455788;179455787;179455786 |
| N2B | 11157 | 33694;33695;33696 | chr2:178591061;178591060;178591059 | chr2:179455788;179455787;179455786 |
| Novex-1 | 11282 | 34069;34070;34071 | chr2:178591061;178591060;178591059 | chr2:179455788;179455787;179455786 |
| Novex-2 | 11349 | 34270;34271;34272 | chr2:178591061;178591060;178591059 | chr2:179455788;179455787;179455786 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.565 | 0.408 | 0.663083320844 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| V/F | rs760330888  |
-0.966 | 1.0 | N | 0.819 | 0.417 | 0.76750275393 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/F | rs760330888 |
-0.966 | 1.0 | N | 0.819 | 0.417 | 0.76750275393 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3357 | likely_benign | 0.4201 | ambiguous | -1.102 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.509168672 | None | None | N |
| V/C | 0.8189 | likely_pathogenic | 0.8402 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| V/D | 0.8991 | likely_pathogenic | 0.9529 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.534924714 | None | None | N |
| V/E | 0.8193 | likely_pathogenic | 0.8983 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/F | 0.3445 | ambiguous | 0.4375 | ambiguous | -0.7 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.496181309 | None | None | N |
| V/G | 0.5714 | likely_pathogenic | 0.6947 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.523821899 | None | None | N |
| V/H | 0.9118 | likely_pathogenic | 0.948 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/I | 0.0893 | likely_benign | 0.0938 | benign | -0.326 | Destabilizing | 0.997 | D | 0.481 | neutral | N | 0.472089573 | None | None | N |
| V/K | 0.8805 | likely_pathogenic | 0.9281 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/L | 0.3719 | ambiguous | 0.4297 | ambiguous | -0.326 | Destabilizing | 0.997 | D | 0.54 | neutral | N | 0.467961743 | None | None | N |
| V/M | 0.3195 | likely_benign | 0.3743 | ambiguous | -0.47 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/N | 0.793 | likely_pathogenic | 0.8693 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/P | 0.9058 | likely_pathogenic | 0.9337 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/Q | 0.804 | likely_pathogenic | 0.8707 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/R | 0.8355 | likely_pathogenic | 0.8989 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| V/S | 0.5398 | ambiguous | 0.6618 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/T | 0.4562 | ambiguous | 0.5285 | ambiguous | -1.331 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| V/W | 0.9585 | likely_pathogenic | 0.9774 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/Y | 0.8141 | likely_pathogenic | 0.8778 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.825 | 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.