Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22794 | 68605;68606;68607 | chr2:178578135;178578134;178578133 | chr2:179442862;179442861;179442860 |
| N2AB | 21153 | 63682;63683;63684 | chr2:178578135;178578134;178578133 | chr2:179442862;179442861;179442860 |
| N2A | 20226 | 60901;60902;60903 | chr2:178578135;178578134;178578133 | chr2:179442862;179442861;179442860 |
| N2B | 13729 | 41410;41411;41412 | chr2:178578135;178578134;178578133 | chr2:179442862;179442861;179442860 |
| Novex-1 | 13854 | 41785;41786;41787 | chr2:178578135;178578134;178578133 | chr2:179442862;179442861;179442860 |
| Novex-2 | 13921 | 41986;41987;41988 | chr2:178578135;178578134;178578133 | chr2:179442862;179442861;179442860 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs528503786  |
None | 0.896 | N | 0.525 | 0.197 | 0.162503812791 | 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 |
| N/K | rs528503786 |
None | 0.896 | N | 0.525 | 0.197 | 0.162503812791 | gnomAD-4.0.0 | 6.57722E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs1252022777 |
-1.2 | 0.016 | N | 0.184 | 0.09 | 0.146414634003 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs1252022777 |
-1.2 | 0.016 | N | 0.184 | 0.09 | 0.146414634003 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs1252022777 |
-1.2 | 0.016 | N | 0.184 | 0.09 | 0.146414634003 | gnomAD-4.0.0 | 2.56423E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39514E-06 | 1.3407E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.601 | likely_pathogenic | 0.5584 | ambiguous | -0.946 | Destabilizing | 0.702 | D | 0.532 | neutral | None | None | None | None | N |
| N/C | 0.3969 | ambiguous | 0.3773 | ambiguous | -0.072 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| N/D | 0.6852 | likely_pathogenic | 0.6803 | pathogenic | -1.072 | Destabilizing | 0.896 | D | 0.523 | neutral | N | 0.482271017 | None | None | N |
| N/E | 0.9443 | likely_pathogenic | 0.9448 | pathogenic | -0.857 | Destabilizing | 0.919 | D | 0.517 | neutral | None | None | None | None | N |
| N/F | 0.9671 | likely_pathogenic | 0.9628 | pathogenic | -0.411 | Destabilizing | 0.996 | D | 0.66 | neutral | None | None | None | None | N |
| N/G | 0.5151 | ambiguous | 0.4751 | ambiguous | -1.377 | Destabilizing | 0.702 | D | 0.501 | neutral | None | None | None | None | N |
| N/H | 0.5661 | likely_pathogenic | 0.5821 | pathogenic | -0.926 | Destabilizing | 0.995 | D | 0.624 | neutral | N | 0.482221792 | None | None | N |
| N/I | 0.81 | likely_pathogenic | 0.7927 | pathogenic | 0.203 | Stabilizing | 0.984 | D | 0.649 | neutral | N | 0.488120368 | None | None | N |
| N/K | 0.9755 | likely_pathogenic | 0.9751 | pathogenic | -0.203 | Destabilizing | 0.896 | D | 0.525 | neutral | N | 0.480042518 | None | None | N |
| N/L | 0.7545 | likely_pathogenic | 0.7129 | pathogenic | 0.203 | Stabilizing | 0.919 | D | 0.576 | neutral | None | None | None | None | N |
| N/M | 0.8045 | likely_pathogenic | 0.7834 | pathogenic | 0.504 | Stabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| N/P | 0.9422 | likely_pathogenic | 0.929 | pathogenic | -0.151 | Destabilizing | 0.988 | D | 0.577 | neutral | None | None | None | None | N |
| N/Q | 0.8993 | likely_pathogenic | 0.9015 | pathogenic | -0.723 | Destabilizing | 0.988 | D | 0.605 | neutral | None | None | None | None | N |
| N/R | 0.9608 | likely_pathogenic | 0.9613 | pathogenic | -0.463 | Destabilizing | 0.976 | D | 0.581 | neutral | None | None | None | None | N |
| N/S | 0.0875 | likely_benign | 0.078 | benign | -1.124 | Destabilizing | 0.016 | N | 0.184 | neutral | N | 0.495642014 | None | None | N |
| N/T | 0.2279 | likely_benign | 0.2031 | benign | -0.698 | Destabilizing | 0.64 | D | 0.507 | neutral | N | 0.464327666 | None | None | N |
| N/V | 0.6375 | likely_pathogenic | 0.6106 | pathogenic | -0.151 | Destabilizing | 0.976 | D | 0.591 | neutral | None | None | None | None | N |
| N/W | 0.9884 | likely_pathogenic | 0.9873 | pathogenic | -0.24 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| N/Y | 0.8381 | likely_pathogenic | 0.8352 | pathogenic | 0.053 | Stabilizing | 0.995 | D | 0.617 | neutral | N | 0.482323924 | 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.