Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23579 | 70960;70961;70962 | chr2:178575397;178575396;178575395 | chr2:179440124;179440123;179440122 |
| N2AB | 21938 | 66037;66038;66039 | chr2:178575397;178575396;178575395 | chr2:179440124;179440123;179440122 |
| N2A | 21011 | 63256;63257;63258 | chr2:178575397;178575396;178575395 | chr2:179440124;179440123;179440122 |
| N2B | 14514 | 43765;43766;43767 | chr2:178575397;178575396;178575395 | chr2:179440124;179440123;179440122 |
| Novex-1 | 14639 | 44140;44141;44142 | chr2:178575397;178575396;178575395 | chr2:179440124;179440123;179440122 |
| Novex-2 | 14706 | 44341;44342;44343 | chr2:178575397;178575396;178575395 | chr2:179440124;179440123;179440122 |
| 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/G | rs1462359637  |
None | 1.0 | D | 0.651 | 0.7 | 0.503744809241 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/G | rs1462359637 |
None | 1.0 | D | 0.651 | 0.7 | 0.503744809241 | gnomAD-4.0.0 | 1.85933E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54307E-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 | 0.9575 | likely_pathogenic | 0.9602 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/C | 0.9866 | likely_pathogenic | 0.9859 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.538657243 | None | None | N |
| W/D | 0.9915 | likely_pathogenic | 0.9921 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/E | 0.993 | likely_pathogenic | 0.9932 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| W/F | 0.5309 | ambiguous | 0.535 | ambiguous | -1.801 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| W/G | 0.8839 | likely_pathogenic | 0.8879 | pathogenic | -2.948 | Highly Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.526540469 | None | None | N |
| W/H | 0.9641 | likely_pathogenic | 0.9641 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| W/I | 0.9656 | likely_pathogenic | 0.9655 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/K | 0.9869 | likely_pathogenic | 0.9876 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| W/L | 0.9151 | likely_pathogenic | 0.9109 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.651 | neutral | D | 0.524512553 | None | None | N |
| W/M | 0.9571 | likely_pathogenic | 0.9576 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/N | 0.9822 | likely_pathogenic | 0.9841 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/P | 0.9815 | likely_pathogenic | 0.9804 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9908 | likely_pathogenic | 0.9908 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.9852 | likely_pathogenic | 0.9851 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.517070268 | None | None | N |
| W/S | 0.9399 | likely_pathogenic | 0.9437 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.525780001 | None | None | N |
| W/T | 0.9679 | likely_pathogenic | 0.9709 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/V | 0.9578 | likely_pathogenic | 0.9568 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Y | 0.7448 | likely_pathogenic | 0.7532 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.552 | 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.