Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8765 | 26518;26519;26520 | chr2:178714481;178714480;178714479 | chr2:179579208;179579207;179579206 |
| N2AB | 8448 | 25567;25568;25569 | chr2:178714481;178714480;178714479 | chr2:179579208;179579207;179579206 |
| N2A | 7521 | 22786;22787;22788 | chr2:178714481;178714480;178714479 | chr2:179579208;179579207;179579206 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs768619883  |
-2.622 | 0.976 | N | 0.615 | 0.42 | 0.776600623924 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 6.46E-05 | 8.71E-05 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs768619883 |
-2.622 | 0.976 | N | 0.615 | 0.42 | 0.776600623924 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs768619883 |
-2.622 | 0.976 | N | 0.615 | 0.42 | 0.776600623924 | gnomAD-4.0.0 | 1.28144E-05 | None | None | None | None | N | None | 3.38409E-05 | 5.08613E-05 | None | 0 | 2.42518E-05 | None | 0 | 0 | 7.18061E-06 | 0 | 2.84527E-05 |
| I/V | rs776531934 |
-1.518 | 0.192 | D | 0.441 | 0.124 | 0.581442141994 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| I/V | rs776531934 |
-1.518 | 0.192 | D | 0.441 | 0.124 | 0.581442141994 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85901E-06 | 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 | 0.5502 | ambiguous | 0.7069 | pathogenic | -2.467 | Highly Destabilizing | 0.989 | D | 0.533 | neutral | None | None | None | None | N |
| I/C | 0.8555 | likely_pathogenic | 0.9187 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| I/D | 0.9413 | likely_pathogenic | 0.9764 | pathogenic | -2.379 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/E | 0.9021 | likely_pathogenic | 0.9577 | pathogenic | -2.203 | Highly Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| I/F | 0.2293 | likely_benign | 0.3726 | ambiguous | -1.53 | Destabilizing | 0.99 | D | 0.575 | neutral | D | 0.531750035 | None | None | N |
| I/G | 0.8759 | likely_pathogenic | 0.9473 | pathogenic | -2.977 | Highly Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| I/H | 0.8255 | likely_pathogenic | 0.9218 | pathogenic | -2.293 | Highly Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| I/K | 0.7348 | likely_pathogenic | 0.8684 | pathogenic | -1.941 | Destabilizing | 0.95 | D | 0.704 | prob.neutral | None | None | None | None | N |
| I/L | 0.117 | likely_benign | 0.1616 | benign | -1.026 | Destabilizing | 0.003 | N | 0.203 | neutral | N | 0.467658484 | None | None | N |
| I/M | 0.1583 | likely_benign | 0.2056 | benign | -0.907 | Destabilizing | 0.422 | N | 0.426 | neutral | N | 0.515049787 | None | None | N |
| I/N | 0.655 | likely_pathogenic | 0.8069 | pathogenic | -2.123 | Highly Destabilizing | 0.999 | D | 0.745 | deleterious | D | 0.52234582 | None | None | N |
| I/P | 0.817 | likely_pathogenic | 0.9056 | pathogenic | -1.483 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| I/Q | 0.7941 | likely_pathogenic | 0.9022 | pathogenic | -2.067 | Highly Destabilizing | 0.996 | D | 0.746 | deleterious | None | None | None | None | N |
| I/R | 0.6401 | likely_pathogenic | 0.8154 | pathogenic | -1.528 | Destabilizing | 0.996 | D | 0.737 | prob.delet. | None | None | None | None | N |
| I/S | 0.6264 | likely_pathogenic | 0.7809 | pathogenic | -2.859 | Highly Destabilizing | 0.998 | D | 0.65 | neutral | N | 0.48398449 | None | None | N |
| I/T | 0.5816 | likely_pathogenic | 0.7297 | pathogenic | -2.537 | Highly Destabilizing | 0.976 | D | 0.615 | neutral | N | 0.489909519 | None | None | N |
| I/V | 0.0801 | likely_benign | 0.0898 | benign | -1.483 | Destabilizing | 0.192 | N | 0.441 | neutral | D | 0.525400066 | None | None | N |
| I/W | 0.9005 | likely_pathogenic | 0.9603 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| I/Y | 0.6934 | likely_pathogenic | 0.8293 | pathogenic | -1.549 | Destabilizing | 0.989 | D | 0.679 | prob.neutral | 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.