Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27617 | 83074;83075;83076 | chr2:178563283;178563282;178563281 | chr2:179428010;179428009;179428008 |
| N2AB | 25976 | 78151;78152;78153 | chr2:178563283;178563282;178563281 | chr2:179428010;179428009;179428008 |
| N2A | 25049 | 75370;75371;75372 | chr2:178563283;178563282;178563281 | chr2:179428010;179428009;179428008 |
| N2B | 18552 | 55879;55880;55881 | chr2:178563283;178563282;178563281 | chr2:179428010;179428009;179428008 |
| Novex-1 | 18677 | 56254;56255;56256 | chr2:178563283;178563282;178563281 | chr2:179428010;179428009;179428008 |
| Novex-2 | 18744 | 56455;56456;56457 | chr2:178563283;178563282;178563281 | chr2:179428010;179428009;179428008 |
| 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/R | None | None | 1.0 | D | 0.738 | 0.672 | 0.685011114773 | gnomAD-4.0.0 | 6.84266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99528E-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 | 0.9826 | likely_pathogenic | 0.9831 | pathogenic | -2.958 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/C | 0.9955 | likely_pathogenic | 0.9956 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.495536199 | None | None | N |
| W/D | 0.9919 | likely_pathogenic | 0.992 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/E | 0.9955 | likely_pathogenic | 0.995 | pathogenic | -1.393 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/F | 0.6757 | likely_pathogenic | 0.6913 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.604 | neutral | None | None | None | None | N |
| W/G | 0.9375 | likely_pathogenic | 0.9313 | pathogenic | -3.146 | Highly Destabilizing | 1.0 | D | 0.653 | neutral | D | 0.531477993 | None | None | N |
| W/H | 0.9899 | likely_pathogenic | 0.9905 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/I | 0.9728 | likely_pathogenic | 0.973 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| W/K | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/L | 0.9438 | likely_pathogenic | 0.9393 | pathogenic | -2.286 | Highly Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.521056286 | None | None | N |
| W/M | 0.9772 | likely_pathogenic | 0.9762 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| W/N | 0.9903 | likely_pathogenic | 0.9904 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/P | 0.9884 | likely_pathogenic | 0.9895 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.531224504 | None | None | N |
| W/S | 0.973 | likely_pathogenic | 0.9742 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.526109169 | None | None | N |
| W/T | 0.9834 | likely_pathogenic | 0.9839 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/V | 0.9731 | likely_pathogenic | 0.972 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/Y | 0.817 | likely_pathogenic | 0.8333 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.549 | neutral | 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.