Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15906 | 47941;47942;47943 | chr2:178617369;178617368;178617367 | chr2:179482096;179482095;179482094 |
| N2AB | 14265 | 43018;43019;43020 | chr2:178617369;178617368;178617367 | chr2:179482096;179482095;179482094 |
| N2A | 13338 | 40237;40238;40239 | chr2:178617369;178617368;178617367 | chr2:179482096;179482095;179482094 |
| N2B | 6841 | 20746;20747;20748 | chr2:178617369;178617368;178617367 | chr2:179482096;179482095;179482094 |
| Novex-1 | 6966 | 21121;21122;21123 | chr2:178617369;178617368;178617367 | chr2:179482096;179482095;179482094 |
| Novex-2 | 7033 | 21322;21323;21324 | chr2:178617369;178617368;178617367 | chr2:179482096;179482095;179482094 |
| 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/L | None | None | 1.0 | D | 0.666 | 0.522 | 0.729068318645 | gnomAD-4.0.0 | 1.6653E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.94447E-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 | 0.9883 | likely_pathogenic | 0.9866 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/C | 0.9953 | likely_pathogenic | 0.9948 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.61213378 | None | None | N |
| W/D | 0.9944 | likely_pathogenic | 0.9935 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/E | 0.9965 | likely_pathogenic | 0.9962 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/F | 0.6552 | likely_pathogenic | 0.6589 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| W/G | 0.9489 | likely_pathogenic | 0.9465 | pathogenic | -3.104 | Highly Destabilizing | 1.0 | D | 0.666 | neutral | D | 0.62149396 | None | None | N |
| W/H | 0.9866 | likely_pathogenic | 0.9864 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| W/I | 0.9801 | likely_pathogenic | 0.9823 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| W/K | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| W/L | 0.9474 | likely_pathogenic | 0.949 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.666 | neutral | D | 0.636068488 | None | None | N |
| W/M | 0.9855 | likely_pathogenic | 0.9871 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/N | 0.9945 | likely_pathogenic | 0.9941 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/P | 0.9859 | likely_pathogenic | 0.9813 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/Q | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.732 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/R | 0.9951 | likely_pathogenic | 0.995 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.675901915 | None | None | N |
| W/S | 0.9811 | likely_pathogenic | 0.9794 | pathogenic | -2.152 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.628173555 | None | None | N |
| W/T | 0.9848 | likely_pathogenic | 0.9855 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/V | 0.9763 | likely_pathogenic | 0.9769 | pathogenic | -2.433 | Highly Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| W/Y | 0.8635 | likely_pathogenic | 0.8746 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.553 | 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.