Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2869 | 8830;8831;8832 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
| N2AB | 2869 | 8830;8831;8832 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
| N2A | 2869 | 8830;8831;8832 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
| N2B | 2823 | 8692;8693;8694 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
| Novex-1 | 2823 | 8692;8693;8694 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
| Novex-2 | 2823 | 8692;8693;8694 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
| Novex-3 | 2869 | 8830;8831;8832 | chr2:178770096;178770095;178770094 | chr2:179634823;179634822;179634821 |
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/R | rs764173950  |
-0.351 | 1.0 | D | 0.797 | 0.708 | 0.856686960939 | gnomAD-2.1.1 | 2.48E-05 | None | None | None | None | I | None | 0 | 5.65E-05 | None | 0 | 5.02E-05 | None | 0 | None | 0 | 3.1E-05 | 0 |
| G/R | rs764173950 |
-0.351 | 1.0 | D | 0.797 | 0.708 | 0.856686960939 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs764173950 |
-0.351 | 1.0 | D | 0.797 | 0.708 | 0.856686960939 | gnomAD-4.0.0 | 8.0546E-06 | None | None | None | None | I | None | 0 | 3.33378E-05 | None | 0 | 2.22777E-05 | None | 0 | 0 | 7.62695E-06 | 1.09791E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.773 | 0.735 | 0.919509768602 | gnomAD-4.0.0 | 1.59046E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85644E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5673 | likely_pathogenic | 0.5932 | pathogenic | -0.209 | Destabilizing | 0.998 | D | 0.53 | neutral | D | 0.651924569 | None | None | I |
| G/C | 0.7677 | likely_pathogenic | 0.8176 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/D | 0.7538 | likely_pathogenic | 0.751 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/E | 0.8653 | likely_pathogenic | 0.8592 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.623092603 | None | None | I |
| G/F | 0.9697 | likely_pathogenic | 0.9697 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/H | 0.9105 | likely_pathogenic | 0.9194 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/I | 0.9745 | likely_pathogenic | 0.9713 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/K | 0.9373 | likely_pathogenic | 0.9401 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/L | 0.9287 | likely_pathogenic | 0.9289 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/M | 0.9668 | likely_pathogenic | 0.9657 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/N | 0.7779 | likely_pathogenic | 0.78 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/P | 0.9919 | likely_pathogenic | 0.9905 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Q | 0.8611 | likely_pathogenic | 0.8703 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/R | 0.8744 | likely_pathogenic | 0.888 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.758028992 | None | None | I |
| G/S | 0.3628 | ambiguous | 0.3925 | ambiguous | -0.732 | Destabilizing | 0.993 | D | 0.537 | neutral | None | None | None | None | I |
| G/T | 0.8854 | likely_pathogenic | 0.8849 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/V | 0.9442 | likely_pathogenic | 0.9435 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.720213273 | None | None | I |
| G/W | 0.9413 | likely_pathogenic | 0.9474 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.756006602 | None | None | I |
| G/Y | 0.9426 | likely_pathogenic | 0.95 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.807 | 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.