Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27625 | 83098;83099;83100 | chr2:178563259;178563258;178563257 | chr2:179427986;179427985;179427984 |
| N2AB | 25984 | 78175;78176;78177 | chr2:178563259;178563258;178563257 | chr2:179427986;179427985;179427984 |
| N2A | 25057 | 75394;75395;75396 | chr2:178563259;178563258;178563257 | chr2:179427986;179427985;179427984 |
| N2B | 18560 | 55903;55904;55905 | chr2:178563259;178563258;178563257 | chr2:179427986;179427985;179427984 |
| Novex-1 | 18685 | 56278;56279;56280 | chr2:178563259;178563258;178563257 | chr2:179427986;179427985;179427984 |
| Novex-2 | 18752 | 56479;56480;56481 | chr2:178563259;178563258;178563257 | chr2:179427986;179427985;179427984 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.991 | N | 0.647 | 0.322 | 0.237489013734 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| G/A | None | None | 0.991 | N | 0.647 | 0.322 | 0.237489013734 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | None | None | 0.991 | N | 0.647 | 0.322 | 0.237489013734 | gnomAD-4.0.0 | 1.2395E-06 | None | None | None | None | N | None | 0 | 3.33467E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | None | None | 0.997 | N | 0.789 | 0.449 | 0.469660041277 | gnomAD-4.0.0 | 6.84249E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| G/R | None | None | 0.652 | N | 0.615 | 0.367 | 0.512192450023 | gnomAD-4.0.0 | 1.59144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85874E-06 | 0 | 0 |
| G/V | rs1466577796  |
-0.528 | 0.999 | N | 0.844 | 0.421 | 0.652220884204 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11607E-04 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1466577796 |
-0.528 | 0.999 | N | 0.844 | 0.421 | 0.652220884204 | gnomAD-4.0.0 | 2.05275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.0421E-05 | None | 0 | 0 | 8.9952E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3381 | likely_benign | 0.3051 | benign | -0.548 | Destabilizing | 0.991 | D | 0.647 | neutral | N | 0.510840753 | None | None | N |
| G/C | 0.5999 | likely_pathogenic | 0.543 | ambiguous | -0.856 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/D | 0.9211 | likely_pathogenic | 0.8972 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| G/E | 0.8636 | likely_pathogenic | 0.8298 | pathogenic | -0.707 | Destabilizing | 0.997 | D | 0.789 | deleterious | N | 0.515958572 | None | None | N |
| G/F | 0.8862 | likely_pathogenic | 0.8711 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/H | 0.9131 | likely_pathogenic | 0.8873 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/I | 0.7491 | likely_pathogenic | 0.6803 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/K | 0.934 | likely_pathogenic | 0.9154 | pathogenic | -1.042 | Destabilizing | 0.996 | D | 0.759 | deleterious | None | None | None | None | N |
| G/L | 0.7664 | likely_pathogenic | 0.7366 | pathogenic | -0.322 | Destabilizing | 0.998 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.8315 | likely_pathogenic | 0.8018 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.8464 | likely_pathogenic | 0.8166 | pathogenic | -0.651 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| G/P | 0.9454 | likely_pathogenic | 0.9358 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.8612 | likely_pathogenic | 0.8303 | pathogenic | -0.856 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| G/R | 0.8464 | likely_pathogenic | 0.8113 | pathogenic | -0.735 | Destabilizing | 0.652 | D | 0.615 | neutral | N | 0.485137019 | None | None | N |
| G/S | 0.3733 | ambiguous | 0.335 | benign | -0.929 | Destabilizing | 0.998 | D | 0.754 | deleterious | None | None | None | None | N |
| G/T | 0.6001 | likely_pathogenic | 0.5328 | ambiguous | -0.942 | Destabilizing | 0.998 | D | 0.798 | deleterious | None | None | None | None | N |
| G/V | 0.6301 | likely_pathogenic | 0.5547 | ambiguous | -0.357 | Destabilizing | 0.999 | D | 0.844 | deleterious | N | 0.500605117 | None | None | N |
| G/W | 0.8691 | likely_pathogenic | 0.8274 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/Y | 0.8347 | likely_pathogenic | 0.8145 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.847 | 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.