Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27199 | 81820;81821;81822 | chr2:178564537;178564536;178564535 | chr2:179429264;179429263;179429262 |
| N2AB | 25558 | 76897;76898;76899 | chr2:178564537;178564536;178564535 | chr2:179429264;179429263;179429262 |
| N2A | 24631 | 74116;74117;74118 | chr2:178564537;178564536;178564535 | chr2:179429264;179429263;179429262 |
| N2B | 18134 | 54625;54626;54627 | chr2:178564537;178564536;178564535 | chr2:179429264;179429263;179429262 |
| Novex-1 | 18259 | 55000;55001;55002 | chr2:178564537;178564536;178564535 | chr2:179429264;179429263;179429262 |
| Novex-2 | 18326 | 55201;55202;55203 | chr2:178564537;178564536;178564535 | chr2:179429264;179429263;179429262 |
| 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/C | rs771111893  |
-0.715 | 1.0 | D | 0.788 | 0.488 | 0.765786679498 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/C | rs771111893 |
-0.715 | 1.0 | D | 0.788 | 0.488 | 0.765786679498 | gnomAD-4.0.0 | 1.59297E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86017E-06 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.713 | 0.511 | 0.485846224565 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.8646 | likely_pathogenic | 0.8359 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.632 | neutral | N | 0.504835952 | None | None | I |
| G/C | 0.9274 | likely_pathogenic | 0.9187 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.548098808 | None | None | I |
| G/D | 0.9686 | likely_pathogenic | 0.9624 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.517459705 | None | None | I |
| G/E | 0.9797 | likely_pathogenic | 0.9742 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/F | 0.984 | likely_pathogenic | 0.9787 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/H | 0.9834 | likely_pathogenic | 0.9793 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/I | 0.9773 | likely_pathogenic | 0.9719 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9826 | likely_pathogenic | 0.9798 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/L | 0.9789 | likely_pathogenic | 0.9728 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/M | 0.9859 | likely_pathogenic | 0.9828 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9511 | likely_pathogenic | 0.945 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/P | 0.9966 | likely_pathogenic | 0.9954 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.9739 | likely_pathogenic | 0.9689 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/R | 0.9589 | likely_pathogenic | 0.9499 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.515244432 | None | None | I |
| G/S | 0.7456 | likely_pathogenic | 0.7145 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.505708098 | None | None | I |
| G/T | 0.9488 | likely_pathogenic | 0.9381 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/V | 0.9679 | likely_pathogenic | 0.9606 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.547084849 | None | None | I |
| G/W | 0.9821 | likely_pathogenic | 0.9745 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Y | 0.9788 | likely_pathogenic | 0.9718 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.775 | 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.