Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3971 | 12136;12137;12138 | chr2:178741322;178741321;178741320 | chr2:179606049;179606048;179606047 |
| N2AB | 3654 | 11185;11186;11187 | chr2:178741322;178741321;178741320 | chr2:179606049;179606048;179606047 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3608 | 11047;11048;11049 | chr2:178741322;178741321;178741320 | chr2:179606049;179606048;179606047 |
| Novex-1 | 3733 | 11422;11423;11424 | chr2:178741322;178741321;178741320 | chr2:179606049;179606048;179606047 |
| Novex-2 | 3800 | 11623;11624;11625 | chr2:178741322;178741321;178741320 | chr2:179606049;179606048;179606047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs749961489  |
-0.975 | 1.0 | D | 0.769 | 0.751 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| W/C | rs749961489 |
-0.975 | 1.0 | D | 0.769 | 0.751 | None | gnomAD-4.0.0 | 6.84174E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-07 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.858 | 0.883 | None | gnomAD-4.0.0 | 3.42087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49715E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9732 | likely_pathogenic | 0.9568 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/C | 0.9831 | likely_pathogenic | 0.9672 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.762873533 | None | None | N |
| W/D | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -2.9 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/E | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/F | 0.4873 | ambiguous | 0.4435 | ambiguous | -1.244 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/G | 0.9519 | likely_pathogenic | 0.9248 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.762928912 | None | None | N |
| W/H | 0.9936 | likely_pathogenic | 0.9905 | pathogenic | -2.038 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/I | 0.8944 | likely_pathogenic | 0.8458 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/K | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/L | 0.8201 | likely_pathogenic | 0.7755 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.762928912 | None | None | N |
| W/M | 0.9688 | likely_pathogenic | 0.9494 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/N | 0.9979 | likely_pathogenic | 0.9967 | pathogenic | -2.996 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/P | 0.995 | likely_pathogenic | 0.9916 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/Q | 0.9988 | likely_pathogenic | 0.998 | pathogenic | -2.625 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/R | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.762873533 | None | None | N |
| W/S | 0.9779 | likely_pathogenic | 0.9617 | pathogenic | -2.951 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.762873533 | None | None | N |
| W/T | 0.9817 | likely_pathogenic | 0.9694 | pathogenic | -2.742 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| W/V | 0.8963 | likely_pathogenic | 0.8389 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/Y | 0.8579 | likely_pathogenic | 0.8296 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.794 | 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.