Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31629 | 95110;95111;95112 | chr2:178546446;178546445;178546444 | chr2:179411173;179411172;179411171 |
| N2AB | 29988 | 90187;90188;90189 | chr2:178546446;178546445;178546444 | chr2:179411173;179411172;179411171 |
| N2A | 29061 | 87406;87407;87408 | chr2:178546446;178546445;178546444 | chr2:179411173;179411172;179411171 |
| N2B | 22564 | 67915;67916;67917 | chr2:178546446;178546445;178546444 | chr2:179411173;179411172;179411171 |
| Novex-1 | 22689 | 68290;68291;68292 | chr2:178546446;178546445;178546444 | chr2:179411173;179411172;179411171 |
| Novex-2 | 22756 | 68491;68492;68493 | chr2:178546446;178546445;178546444 | chr2:179411173;179411172;179411171 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs758521497  |
-0.807 | 1.0 | N | 0.709 | 0.342 | 0.188950314367 | gnomAD-2.1.1 | 2.51E-05 | None | None | None | None | I | None | 8.27E-05 | 1.41675E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs758521497 |
-0.807 | 1.0 | N | 0.709 | 0.342 | 0.188950314367 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs758521497 |
-0.807 | 1.0 | N | 0.709 | 0.342 | 0.188950314367 | gnomAD-4.0.0 | 6.81714E-06 | None | None | None | None | I | None | 6.67592E-05 | 1.00037E-04 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8539 | likely_pathogenic | 0.8426 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| A/D | 0.9705 | likely_pathogenic | 0.9669 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| A/E | 0.9188 | likely_pathogenic | 0.9055 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.492049057 | None | None | I |
| A/F | 0.9323 | likely_pathogenic | 0.9274 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| A/G | 0.5201 | ambiguous | 0.524 | ambiguous | -0.691 | Destabilizing | 1.0 | D | 0.543 | neutral | N | 0.500511906 | None | None | I |
| A/H | 0.94 | likely_pathogenic | 0.9375 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| A/I | 0.8973 | likely_pathogenic | 0.8804 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| A/K | 0.9393 | likely_pathogenic | 0.9375 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| A/L | 0.8399 | likely_pathogenic | 0.8305 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| A/M | 0.8427 | likely_pathogenic | 0.8226 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| A/N | 0.9056 | likely_pathogenic | 0.8992 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| A/P | 0.9575 | likely_pathogenic | 0.9536 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.476531847 | None | None | I |
| A/Q | 0.8553 | likely_pathogenic | 0.8431 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| A/R | 0.8769 | likely_pathogenic | 0.8682 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| A/S | 0.2315 | likely_benign | 0.241 | benign | -0.794 | Destabilizing | 1.0 | D | 0.555 | neutral | N | 0.461643596 | None | None | I |
| A/T | 0.6644 | likely_pathogenic | 0.6374 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.463200532 | None | None | I |
| A/V | 0.6456 | likely_pathogenic | 0.6166 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.511194965 | None | None | I |
| A/W | 0.9872 | likely_pathogenic | 0.9862 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| A/Y | 0.9486 | likely_pathogenic | 0.9456 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
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.