Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32441 | 97546;97547;97548 | chr2:178542435;178542434;178542433 | chr2:179407162;179407161;179407160 |
| N2AB | 30800 | 92623;92624;92625 | chr2:178542435;178542434;178542433 | chr2:179407162;179407161;179407160 |
| N2A | 29873 | 89842;89843;89844 | chr2:178542435;178542434;178542433 | chr2:179407162;179407161;179407160 |
| N2B | 23376 | 70351;70352;70353 | chr2:178542435;178542434;178542433 | chr2:179407162;179407161;179407160 |
| Novex-1 | 23501 | 70726;70727;70728 | chr2:178542435;178542434;178542433 | chr2:179407162;179407161;179407160 |
| Novex-2 | 23568 | 70927;70928;70929 | chr2:178542435;178542434;178542433 | chr2:179407162;179407161;179407160 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1232609141  |
-1.417 | 0.999 | N | 0.613 | 0.427 | 0.442567846599 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs1232609141 |
-1.417 | 0.999 | N | 0.613 | 0.427 | 0.442567846599 | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7217 | likely_pathogenic | 0.6703 | pathogenic | -0.672 | Destabilizing | 0.999 | D | 0.745 | deleterious | N | 0.475381256 | None | None | N |
| D/C | 0.9359 | likely_pathogenic | 0.9179 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/E | 0.4809 | ambiguous | 0.4132 | ambiguous | -0.863 | Destabilizing | 0.893 | D | 0.262 | neutral | N | 0.412658059 | None | None | N |
| D/F | 0.9484 | likely_pathogenic | 0.934 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/G | 0.8281 | likely_pathogenic | 0.801 | pathogenic | -1.04 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | N | 0.484459837 | None | None | N |
| D/H | 0.8488 | likely_pathogenic | 0.819 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.505855774 | None | None | N |
| D/I | 0.9111 | likely_pathogenic | 0.8775 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| D/K | 0.9367 | likely_pathogenic | 0.9207 | pathogenic | -1.221 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/L | 0.8574 | likely_pathogenic | 0.8185 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| D/M | 0.9505 | likely_pathogenic | 0.9343 | pathogenic | 0.838 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/N | 0.471 | ambiguous | 0.4197 | ambiguous | -1.401 | Destabilizing | 0.999 | D | 0.613 | neutral | N | 0.483445879 | None | None | N |
| D/P | 0.9442 | likely_pathogenic | 0.9326 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/Q | 0.8812 | likely_pathogenic | 0.8586 | pathogenic | -1.205 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/R | 0.9358 | likely_pathogenic | 0.9213 | pathogenic | -1.09 | Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| D/S | 0.6472 | likely_pathogenic | 0.607 | pathogenic | -1.764 | Destabilizing | 0.997 | D | 0.563 | neutral | None | None | None | None | N |
| D/T | 0.8736 | likely_pathogenic | 0.8515 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| D/V | 0.7899 | likely_pathogenic | 0.733 | pathogenic | 0.007 | Stabilizing | 0.999 | D | 0.88 | deleterious | N | 0.48297858 | None | None | N |
| D/W | 0.9858 | likely_pathogenic | 0.9831 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/Y | 0.7548 | likely_pathogenic | 0.7067 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.524973988 | 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.