Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30308 | 91147;91148;91149 | chr2:178551978;178551977;178551976 | chr2:179416705;179416704;179416703 |
| N2AB | 28667 | 86224;86225;86226 | chr2:178551978;178551977;178551976 | chr2:179416705;179416704;179416703 |
| N2A | 27740 | 83443;83444;83445 | chr2:178551978;178551977;178551976 | chr2:179416705;179416704;179416703 |
| N2B | 21243 | 63952;63953;63954 | chr2:178551978;178551977;178551976 | chr2:179416705;179416704;179416703 |
| Novex-1 | 21368 | 64327;64328;64329 | chr2:178551978;178551977;178551976 | chr2:179416705;179416704;179416703 |
| Novex-2 | 21435 | 64528;64529;64530 | chr2:178551978;178551977;178551976 | chr2:179416705;179416704;179416703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 1.0 | D | 0.873 | 0.672 | 0.579396798201 | gnomAD-4.0.0 | 1.59636E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87216E-06 | 0 | 0 |
| S/N | rs747482598  |
-1.445 | 0.999 | D | 0.737 | 0.351 | 0.337868961071 | gnomAD-2.1.1 | 6.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.57487E-04 | None | 0 | 0 | 0 |
| S/N | rs747482598 |
-1.445 | 0.999 | D | 0.737 | 0.351 | 0.337868961071 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.22407E-04 | 0 |
| S/N | rs747482598 |
-1.445 | 0.999 | D | 0.737 | 0.351 | 0.337868961071 | gnomAD-4.0.0 | 2.54413E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.39618E-04 | 1.60318E-05 |
| S/R | rs755569117 |
-0.941 | 1.0 | D | 0.879 | 0.641 | 0.420939154896 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5717 | likely_pathogenic | 0.5702 | pathogenic | -0.888 | Destabilizing | 0.998 | D | 0.724 | prob.delet. | None | None | None | None | N |
| S/C | 0.7886 | likely_pathogenic | 0.7689 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.548460294 | None | None | N |
| S/D | 0.9907 | likely_pathogenic | 0.9888 | pathogenic | -1.406 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| S/E | 0.9973 | likely_pathogenic | 0.9965 | pathogenic | -1.318 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| S/F | 0.9958 | likely_pathogenic | 0.995 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| S/G | 0.1748 | likely_benign | 0.1957 | benign | -1.195 | Destabilizing | 0.999 | D | 0.755 | deleterious | N | 0.446876915 | None | None | N |
| S/H | 0.992 | likely_pathogenic | 0.9908 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| S/I | 0.9964 | likely_pathogenic | 0.9962 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.548206804 | None | None | N |
| S/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.92 | Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| S/L | 0.9753 | likely_pathogenic | 0.9749 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| S/M | 0.9878 | likely_pathogenic | 0.9878 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| S/N | 0.9689 | likely_pathogenic | 0.9624 | pathogenic | -1.191 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.547446336 | None | None | N |
| S/P | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/Q | 0.9957 | likely_pathogenic | 0.995 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| S/R | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.53634352 | None | None | N |
| S/T | 0.8227 | likely_pathogenic | 0.8266 | pathogenic | -1.02 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | D | 0.546432377 | None | None | N |
| S/V | 0.9941 | likely_pathogenic | 0.994 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/W | 0.9965 | likely_pathogenic | 0.9961 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| S/Y | 0.9936 | likely_pathogenic | 0.9922 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.906 | 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.