Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30580 | 91963;91964;91965 | chr2:178550100;178550099;178550098 | chr2:179414827;179414826;179414825 |
| N2AB | 28939 | 87040;87041;87042 | chr2:178550100;178550099;178550098 | chr2:179414827;179414826;179414825 |
| N2A | 28012 | 84259;84260;84261 | chr2:178550100;178550099;178550098 | chr2:179414827;179414826;179414825 |
| N2B | 21515 | 64768;64769;64770 | chr2:178550100;178550099;178550098 | chr2:179414827;179414826;179414825 |
| Novex-1 | 21640 | 65143;65144;65145 | chr2:178550100;178550099;178550098 | chr2:179414827;179414826;179414825 |
| Novex-2 | 21707 | 65344;65345;65346 | chr2:178550100;178550099;178550098 | chr2:179414827;179414826;179414825 |
| 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/R | rs1296437798  |
-0.417 | 1.0 | N | 0.642 | 0.499 | 0.723635906084 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1296437798 |
-0.417 | 1.0 | N | 0.642 | 0.499 | 0.723635906084 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4128 | ambiguous | 0.3871 | ambiguous | -0.235 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.4832997 | None | None | I |
| G/C | 0.5978 | likely_pathogenic | 0.555 | ambiguous | -0.876 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| G/D | 0.7493 | likely_pathogenic | 0.7036 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| G/E | 0.7851 | likely_pathogenic | 0.7372 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.661 | neutral | D | 0.532480754 | None | None | I |
| G/F | 0.9019 | likely_pathogenic | 0.8828 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | I |
| G/H | 0.8281 | likely_pathogenic | 0.7931 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | I |
| G/I | 0.8784 | likely_pathogenic | 0.8444 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | I |
| G/K | 0.9231 | likely_pathogenic | 0.8939 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| G/L | 0.8481 | likely_pathogenic | 0.8242 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | I |
| G/M | 0.89 | likely_pathogenic | 0.8664 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | I |
| G/N | 0.6682 | likely_pathogenic | 0.6308 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| G/P | 0.9761 | likely_pathogenic | 0.9733 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| G/Q | 0.7865 | likely_pathogenic | 0.7399 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | I |
| G/R | 0.8419 | likely_pathogenic | 0.8012 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.642 | neutral | N | 0.508105171 | None | None | I |
| G/S | 0.3062 | likely_benign | 0.2868 | benign | -0.634 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| G/T | 0.6183 | likely_pathogenic | 0.5698 | pathogenic | -0.697 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| G/V | 0.7906 | likely_pathogenic | 0.7513 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.652 | neutral | N | 0.487733926 | None | None | I |
| G/W | 0.8509 | likely_pathogenic | 0.8233 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | I |
| G/Y | 0.8282 | likely_pathogenic | 0.8012 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.607 | neutral | 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.