Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9428 | 28507;28508;28509 | chr2:178710815;178710814;178710813 | chr2:179575542;179575541;179575540 |
| N2AB | 9111 | 27556;27557;27558 | chr2:178710815;178710814;178710813 | chr2:179575542;179575541;179575540 |
| N2A | 8184 | 24775;24776;24777 | chr2:178710815;178710814;178710813 | chr2:179575542;179575541;179575540 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | None | None | 0.942 | None | 0.735 | 0.512 | 0.882498648049 | gnomAD-4.0.0 | 5.47328E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1954E-06 | 0 | 0 |
| V/I | rs1284963573  |
-0.293 | 0.014 | None | 0.203 | 0.184 | 0.445811967706 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| V/I | rs1284963573 |
-0.293 | 0.014 | None | 0.203 | 0.184 | 0.445811967706 | gnomAD-4.0.0 | 4.78912E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 3.5977E-06 | 1.15931E-05 | 1.65634E-05 |
| V/L | rs1284963573 |
-0.295 | 0.014 | None | 0.331 | 0.343 | 0.448099371145 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1284963573 |
-0.295 | 0.014 | None | 0.331 | 0.343 | 0.448099371145 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1284963573 |
-0.295 | 0.014 | None | 0.331 | 0.343 | 0.448099371145 | gnomAD-4.0.0 | 1.31449E-05 | None | None | None | None | I | None | 4.82649E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5707 | likely_pathogenic | 0.7314 | pathogenic | -1.557 | Destabilizing | 0.822 | D | 0.647 | neutral | None | None | None | None | I |
| V/C | 0.933 | likely_pathogenic | 0.9695 | pathogenic | -0.922 | Destabilizing | 0.998 | D | 0.688 | prob.neutral | None | None | None | None | I |
| V/D | 0.8939 | likely_pathogenic | 0.9739 | pathogenic | -1.633 | Destabilizing | 0.99 | D | 0.851 | deleterious | None | None | None | None | I |
| V/E | 0.8248 | likely_pathogenic | 0.9408 | pathogenic | -1.533 | Destabilizing | 0.993 | D | 0.84 | deleterious | None | None | None | None | I |
| V/F | 0.2945 | likely_benign | 0.5111 | ambiguous | -0.983 | Destabilizing | 0.942 | D | 0.735 | prob.delet. | None | None | None | None | I |
| V/G | 0.5945 | likely_pathogenic | 0.8004 | pathogenic | -1.959 | Destabilizing | 0.971 | D | 0.851 | deleterious | None | None | None | None | I |
| V/H | 0.9415 | likely_pathogenic | 0.9847 | pathogenic | -1.511 | Destabilizing | 0.998 | D | 0.835 | deleterious | None | None | None | None | I |
| V/I | 0.0884 | likely_benign | 0.1028 | benign | -0.504 | Destabilizing | 0.014 | N | 0.203 | neutral | None | None | None | None | I |
| V/K | 0.882 | likely_pathogenic | 0.9693 | pathogenic | -1.335 | Destabilizing | 0.978 | D | 0.842 | deleterious | None | None | None | None | I |
| V/L | 0.3002 | likely_benign | 0.4792 | ambiguous | -0.504 | Destabilizing | 0.014 | N | 0.331 | neutral | None | None | None | None | I |
| V/M | 0.3089 | likely_benign | 0.504 | ambiguous | -0.414 | Destabilizing | 0.956 | D | 0.642 | neutral | None | None | None | None | I |
| V/N | 0.8178 | likely_pathogenic | 0.9509 | pathogenic | -1.289 | Destabilizing | 0.993 | D | 0.855 | deleterious | None | None | None | None | I |
| V/P | 0.8599 | likely_pathogenic | 0.958 | pathogenic | -0.823 | Destabilizing | 0.993 | D | 0.831 | deleterious | None | None | None | None | I |
| V/Q | 0.8458 | likely_pathogenic | 0.9598 | pathogenic | -1.316 | Destabilizing | 0.993 | D | 0.841 | deleterious | None | None | None | None | I |
| V/R | 0.8389 | likely_pathogenic | 0.9544 | pathogenic | -0.968 | Destabilizing | 0.978 | D | 0.85 | deleterious | None | None | None | None | I |
| V/S | 0.7403 | likely_pathogenic | 0.8976 | pathogenic | -1.826 | Destabilizing | 0.978 | D | 0.835 | deleterious | None | None | None | None | I |
| V/T | 0.63 | likely_pathogenic | 0.7868 | pathogenic | -1.602 | Destabilizing | 0.86 | D | 0.685 | prob.neutral | None | None | None | None | I |
| V/W | 0.9405 | likely_pathogenic | 0.9798 | pathogenic | -1.314 | Destabilizing | 0.998 | D | 0.834 | deleterious | None | None | None | None | I |
| V/Y | 0.775 | likely_pathogenic | 0.92 | pathogenic | -0.959 | Destabilizing | 0.978 | D | 0.707 | prob.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.