Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16892 | 50899;50900;50901 | chr2:178611555;178611554;178611553 | chr2:179476282;179476281;179476280 |
| N2AB | 15251 | 45976;45977;45978 | chr2:178611555;178611554;178611553 | chr2:179476282;179476281;179476280 |
| N2A | 14324 | 43195;43196;43197 | chr2:178611555;178611554;178611553 | chr2:179476282;179476281;179476280 |
| N2B | 7827 | 23704;23705;23706 | chr2:178611555;178611554;178611553 | chr2:179476282;179476281;179476280 |
| Novex-1 | 7952 | 24079;24080;24081 | chr2:178611555;178611554;178611553 | chr2:179476282;179476281;179476280 |
| Novex-2 | 8019 | 24280;24281;24282 | chr2:178611555;178611554;178611553 | chr2:179476282;179476281;179476280 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs958402858  |
None | 1.0 | N | 0.875 | 0.415 | 0.785167026474 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/F | rs958402858 |
None | 1.0 | N | 0.875 | 0.415 | 0.785167026474 | gnomAD-4.0.0 | 6.57895E-06 | None | None | None | None | N | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs1256128085 |
-1.498 | 1.0 | N | 0.886 | 0.537 | 0.77036421607 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| C/R | rs1256128085 |
-1.498 | 1.0 | N | 0.886 | 0.537 | 0.77036421607 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs1256128085 |
-1.498 | 1.0 | N | 0.886 | 0.537 | 0.77036421607 | gnomAD-4.0.0 | 2.16996E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9678E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7132 | likely_pathogenic | 0.685 | pathogenic | -1.601 | Destabilizing | 0.998 | D | 0.497 | neutral | None | None | None | None | N |
| C/D | 0.9886 | likely_pathogenic | 0.9814 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| C/E | 0.9786 | likely_pathogenic | 0.9703 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| C/F | 0.7824 | likely_pathogenic | 0.7232 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.479255685 | None | None | N |
| C/G | 0.6348 | likely_pathogenic | 0.5769 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.468544075 | None | None | N |
| C/H | 0.9045 | likely_pathogenic | 0.8618 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| C/I | 0.9071 | likely_pathogenic | 0.8928 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/K | 0.9354 | likely_pathogenic | 0.9235 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| C/L | 0.8042 | likely_pathogenic | 0.7867 | pathogenic | -0.702 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| C/M | 0.8609 | likely_pathogenic | 0.8568 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| C/N | 0.9172 | likely_pathogenic | 0.8876 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/P | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| C/Q | 0.8239 | likely_pathogenic | 0.7977 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/R | 0.7465 | likely_pathogenic | 0.7022 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.405351591 | None | None | N |
| C/S | 0.6954 | likely_pathogenic | 0.6282 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.449893087 | None | None | N |
| C/T | 0.8841 | likely_pathogenic | 0.8698 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| C/V | 0.8318 | likely_pathogenic | 0.8198 | pathogenic | -0.981 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| C/W | 0.9602 | likely_pathogenic | 0.9365 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.474545434 | None | None | N |
| C/Y | 0.8654 | likely_pathogenic | 0.799 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.882 | deleterious | N | 0.471939094 | 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.