Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21481 | 64666;64667;64668 | chr2:178585303;178585302;178585301 | chr2:179450030;179450029;179450028 |
| N2AB | 19840 | 59743;59744;59745 | chr2:178585303;178585302;178585301 | chr2:179450030;179450029;179450028 |
| N2A | 18913 | 56962;56963;56964 | chr2:178585303;178585302;178585301 | chr2:179450030;179450029;179450028 |
| N2B | 12416 | 37471;37472;37473 | chr2:178585303;178585302;178585301 | chr2:179450030;179450029;179450028 |
| Novex-1 | 12541 | 37846;37847;37848 | chr2:178585303;178585302;178585301 | chr2:179450030;179450029;179450028 |
| Novex-2 | 12608 | 38047;38048;38049 | chr2:178585303;178585302;178585301 | chr2:179450030;179450029;179450028 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.784 | 0.571 | 0.649053977314 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | rs1341234616  |
-0.579 | 1.0 | D | 0.89 | 0.547 | 0.739304310542 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | rs1341234616 |
-0.579 | 1.0 | D | 0.89 | 0.547 | 0.739304310542 | gnomAD-4.0.0 | 1.02826E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.26076E-05 | 0 | 1.6597E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7144 | likely_pathogenic | 0.6033 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.597127032 | None | None | N |
| G/C | 0.7983 | likely_pathogenic | 0.6839 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/D | 0.7505 | likely_pathogenic | 0.6327 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/E | 0.8387 | likely_pathogenic | 0.7289 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.591303274 | None | None | N |
| G/F | 0.976 | likely_pathogenic | 0.9608 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/H | 0.8466 | likely_pathogenic | 0.7632 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/I | 0.9854 | likely_pathogenic | 0.9694 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/K | 0.8452 | likely_pathogenic | 0.7462 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.9441 | likely_pathogenic | 0.9123 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/M | 0.9599 | likely_pathogenic | 0.9313 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/N | 0.6794 | likely_pathogenic | 0.5856 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/P | 0.9969 | likely_pathogenic | 0.9939 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.7776 | likely_pathogenic | 0.665 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/R | 0.762 | likely_pathogenic | 0.6359 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.597328836 | None | None | N |
| G/S | 0.4216 | ambiguous | 0.332 | benign | -0.737 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/T | 0.8455 | likely_pathogenic | 0.7554 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/V | 0.9637 | likely_pathogenic | 0.9298 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.63490915 | None | None | N |
| G/W | 0.9361 | likely_pathogenic | 0.8962 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.635110954 | None | None | N |
| G/Y | 0.9444 | likely_pathogenic | 0.905 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.857 | 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.