Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25053 | 75382;75383;75384 | chr2:178570975;178570974;178570973 | chr2:179435702;179435701;179435700 |
| N2AB | 23412 | 70459;70460;70461 | chr2:178570975;178570974;178570973 | chr2:179435702;179435701;179435700 |
| N2A | 22485 | 67678;67679;67680 | chr2:178570975;178570974;178570973 | chr2:179435702;179435701;179435700 |
| N2B | 15988 | 48187;48188;48189 | chr2:178570975;178570974;178570973 | chr2:179435702;179435701;179435700 |
| Novex-1 | 16113 | 48562;48563;48564 | chr2:178570975;178570974;178570973 | chr2:179435702;179435701;179435700 |
| Novex-2 | 16180 | 48763;48764;48765 | chr2:178570975;178570974;178570973 | chr2:179435702;179435701;179435700 |
| 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 | rs1194834510  |
None | 0.983 | D | 0.74 | 0.436 | 0.562093668211 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs1194834510 |
None | 0.983 | D | 0.74 | 0.436 | 0.562093668211 | gnomAD-4.0.0 | 2.03022E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.13869E-04 | None | 0 | 0 | 1.20499E-06 | 0 | 0 |
| W/S | rs748412838 |
-1.924 | 0.967 | N | 0.702 | 0.431 | 0.656797156285 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| W/S | rs748412838 |
-1.924 | 0.967 | N | 0.702 | 0.431 | 0.656797156285 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/S | rs748412838 |
-1.924 | 0.967 | N | 0.702 | 0.431 | 0.656797156285 | gnomAD-4.0.0 | 2.47927E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.30618E-05 | 0 | 1.60143E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -2.82 | Highly Destabilizing | 0.845 | D | 0.607 | neutral | None | None | None | None | I |
| W/C | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -1.119 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | D | 0.543876893 | None | None | I |
| W/D | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.539 | Destabilizing | 0.975 | D | 0.73 | prob.delet. | None | None | None | None | I |
| W/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.471 | Destabilizing | 0.987 | D | 0.728 | prob.delet. | None | None | None | None | I |
| W/F | 0.7622 | likely_pathogenic | 0.7326 | pathogenic | -1.741 | Destabilizing | 0.996 | D | 0.596 | neutral | None | None | None | None | I |
| W/G | 0.9817 | likely_pathogenic | 0.9796 | pathogenic | -3.013 | Highly Destabilizing | 0.025 | N | 0.371 | neutral | D | 0.531760119 | None | None | I |
| W/H | 0.9939 | likely_pathogenic | 0.9933 | pathogenic | -1.349 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | I |
| W/I | 0.9924 | likely_pathogenic | 0.9923 | pathogenic | -2.127 | Highly Destabilizing | 0.996 | D | 0.741 | deleterious | None | None | None | None | I |
| W/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.484 | Destabilizing | 0.975 | D | 0.731 | prob.delet. | None | None | None | None | I |
| W/L | 0.9773 | likely_pathogenic | 0.9771 | pathogenic | -2.127 | Highly Destabilizing | 0.983 | D | 0.596 | neutral | D | 0.541595488 | None | None | I |
| W/M | 0.9938 | likely_pathogenic | 0.9933 | pathogenic | -1.533 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | I |
| W/N | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -1.834 | Destabilizing | 0.975 | D | 0.736 | prob.delet. | None | None | None | None | I |
| W/P | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -2.373 | Highly Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.836 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | I |
| W/R | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.907 | Destabilizing | 0.983 | D | 0.74 | deleterious | D | 0.542609446 | None | None | I |
| W/S | 0.9906 | likely_pathogenic | 0.9893 | pathogenic | -2.24 | Highly Destabilizing | 0.967 | D | 0.702 | prob.neutral | N | 0.512895396 | None | None | I |
| W/T | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -2.13 | Highly Destabilizing | 0.987 | D | 0.677 | prob.neutral | None | None | None | None | I |
| W/V | 0.9919 | likely_pathogenic | 0.9914 | pathogenic | -2.373 | Highly Destabilizing | 0.987 | D | 0.729 | prob.delet. | None | None | None | None | I |
| W/Y | 0.91 | likely_pathogenic | 0.9022 | pathogenic | -1.597 | Destabilizing | 0.996 | D | 0.565 | neutral | 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.