Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18114 | 54565;54566;54567 | chr2:178604749;178604748;178604747 | chr2:179469476;179469475;179469474 |
| N2AB | 16473 | 49642;49643;49644 | chr2:178604749;178604748;178604747 | chr2:179469476;179469475;179469474 |
| N2A | 15546 | 46861;46862;46863 | chr2:178604749;178604748;178604747 | chr2:179469476;179469475;179469474 |
| N2B | 9049 | 27370;27371;27372 | chr2:178604749;178604748;178604747 | chr2:179469476;179469475;179469474 |
| Novex-1 | 9174 | 27745;27746;27747 | chr2:178604749;178604748;178604747 | chr2:179469476;179469475;179469474 |
| Novex-2 | 9241 | 27946;27947;27948 | chr2:178604749;178604748;178604747 | chr2:179469476;179469475;179469474 |
| 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 | rs552112862  |
-1.235 | 1.0 | N | 0.757 | 0.635 | 0.692403708683 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 1.29534E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs552112862 |
-1.235 | 1.0 | N | 0.757 | 0.635 | 0.692403708683 | gnomAD-3.1.2 | 4.61E-05 | None | None | None | None | N | None | 1.69017E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs552112862 |
-1.235 | 1.0 | N | 0.757 | 0.635 | 0.692403708683 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| W/R | rs552112862 |
-1.235 | 1.0 | N | 0.757 | 0.635 | 0.692403708683 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9822 | likely_pathogenic | 0.9851 | pathogenic | -3.188 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/C | 0.9932 | likely_pathogenic | 0.9961 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.482626639 | None | None | N |
| W/D | 0.9927 | likely_pathogenic | 0.9938 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/E | 0.9948 | likely_pathogenic | 0.9961 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/F | 0.6317 | likely_pathogenic | 0.7166 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| W/G | 0.9504 | likely_pathogenic | 0.9535 | pathogenic | -3.374 | Highly Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.511073241 | None | None | N |
| W/H | 0.9907 | likely_pathogenic | 0.9937 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| W/I | 0.9749 | likely_pathogenic | 0.9813 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/K | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| W/L | 0.9495 | likely_pathogenic | 0.9593 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.528417028 | None | None | N |
| W/M | 0.9781 | likely_pathogenic | 0.9837 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/N | 0.9928 | likely_pathogenic | 0.995 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/P | 0.9864 | likely_pathogenic | 0.9888 | pathogenic | -2.751 | Highly Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| W/Q | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/R | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.51832817 | None | None | N |
| W/S | 0.9781 | likely_pathogenic | 0.9817 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.527656559 | None | None | N |
| W/T | 0.9794 | likely_pathogenic | 0.9836 | pathogenic | -2.13 | Highly Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| W/V | 0.9741 | likely_pathogenic | 0.9806 | pathogenic | -2.751 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/Y | 0.8188 | likely_pathogenic | 0.8805 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.605 | 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.