Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24676 | 74251;74252;74253 | chr2:178572106;178572105;178572104 | chr2:179436833;179436832;179436831 |
| N2AB | 23035 | 69328;69329;69330 | chr2:178572106;178572105;178572104 | chr2:179436833;179436832;179436831 |
| N2A | 22108 | 66547;66548;66549 | chr2:178572106;178572105;178572104 | chr2:179436833;179436832;179436831 |
| N2B | 15611 | 47056;47057;47058 | chr2:178572106;178572105;178572104 | chr2:179436833;179436832;179436831 |
| Novex-1 | 15736 | 47431;47432;47433 | chr2:178572106;178572105;178572104 | chr2:179436833;179436832;179436831 |
| Novex-2 | 15803 | 47632;47633;47634 | chr2:178572106;178572105;178572104 | chr2:179436833;179436832;179436831 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | rs778879302  |
-1.784 | 0.985 | N | 0.829 | 0.542 | 0.858494941766 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs778879302 |
-2.341 | 0.017 | N | 0.515 | 0.385 | 0.629215704067 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs778879302 |
-2.341 | 0.017 | N | 0.515 | 0.385 | 0.629215704067 | 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 |
| I/T | rs778879302 |
-2.341 | 0.017 | N | 0.515 | 0.385 | 0.629215704067 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9009 | likely_pathogenic | 0.8849 | pathogenic | -2.296 | Highly Destabilizing | 0.836 | D | 0.679 | prob.neutral | None | None | None | None | N |
| I/C | 0.9445 | likely_pathogenic | 0.9401 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| I/D | 0.9982 | likely_pathogenic | 0.9979 | pathogenic | -1.47 | Destabilizing | 0.989 | D | 0.81 | deleterious | None | None | None | None | N |
| I/E | 0.994 | likely_pathogenic | 0.9923 | pathogenic | -1.33 | Destabilizing | 0.985 | D | 0.805 | deleterious | None | None | None | None | N |
| I/F | 0.6587 | likely_pathogenic | 0.5881 | pathogenic | -1.454 | Destabilizing | 0.981 | D | 0.72 | prob.delet. | N | 0.480282781 | None | None | N |
| I/G | 0.9909 | likely_pathogenic | 0.9894 | pathogenic | -2.773 | Highly Destabilizing | 0.961 | D | 0.792 | deleterious | None | None | None | None | N |
| I/H | 0.9901 | likely_pathogenic | 0.9869 | pathogenic | -1.94 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| I/K | 0.9878 | likely_pathogenic | 0.9841 | pathogenic | -1.637 | Destabilizing | 0.717 | D | 0.808 | deleterious | None | None | None | None | N |
| I/L | 0.326 | likely_benign | 0.2703 | benign | -0.974 | Destabilizing | 0.047 | N | 0.475 | neutral | N | 0.457966274 | None | None | N |
| I/M | 0.4123 | ambiguous | 0.3403 | ambiguous | -0.955 | Destabilizing | 0.94 | D | 0.644 | neutral | N | 0.487692748 | None | None | N |
| I/N | 0.9772 | likely_pathogenic | 0.9747 | pathogenic | -1.693 | Destabilizing | 0.985 | D | 0.829 | deleterious | N | 0.508772745 | None | None | N |
| I/P | 0.9927 | likely_pathogenic | 0.992 | pathogenic | -1.389 | Destabilizing | 0.994 | D | 0.827 | deleterious | None | None | None | None | N |
| I/Q | 0.9886 | likely_pathogenic | 0.9854 | pathogenic | -1.654 | Destabilizing | 0.986 | D | 0.837 | deleterious | None | None | None | None | N |
| I/R | 0.9825 | likely_pathogenic | 0.9771 | pathogenic | -1.252 | Destabilizing | 0.972 | D | 0.833 | deleterious | None | None | None | None | N |
| I/S | 0.9629 | likely_pathogenic | 0.9591 | pathogenic | -2.531 | Highly Destabilizing | 0.903 | D | 0.775 | deleterious | N | 0.5016824 | None | None | N |
| I/T | 0.9351 | likely_pathogenic | 0.9243 | pathogenic | -2.232 | Highly Destabilizing | 0.017 | N | 0.515 | neutral | N | 0.483831635 | None | None | N |
| I/V | 0.068 | likely_benign | 0.0655 | benign | -1.389 | Destabilizing | 0.004 | N | 0.19 | neutral | N | 0.392666788 | None | None | N |
| I/W | 0.9938 | likely_pathogenic | 0.9911 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/Y | 0.9625 | likely_pathogenic | 0.9539 | pathogenic | -1.345 | Destabilizing | 0.961 | D | 0.791 | 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.