Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35687 | 107284;107285;107286 | chr2:178528692;178528691;178528690 | chr2:179393419;179393418;179393417 |
| N2AB | 34046 | 102361;102362;102363 | chr2:178528692;178528691;178528690 | chr2:179393419;179393418;179393417 |
| N2A | 33119 | 99580;99581;99582 | chr2:178528692;178528691;178528690 | chr2:179393419;179393418;179393417 |
| N2B | 26622 | 80089;80090;80091 | chr2:178528692;178528691;178528690 | chr2:179393419;179393418;179393417 |
| Novex-1 | 26747 | 80464;80465;80466 | chr2:178528692;178528691;178528690 | chr2:179393419;179393418;179393417 |
| Novex-2 | 26814 | 80665;80666;80667 | chr2:178528692;178528691;178528690 | chr2:179393419;179393418;179393417 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs113190638  |
-0.282 | 0.549 | N | 0.53 | 0.147 | 0.247872288689 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| K/N | rs113190638 |
-0.282 | 0.549 | N | 0.53 | 0.147 | 0.247872288689 | gnomAD-4.0.0 | 3.42177E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59815E-06 | 0 | 1.65684E-05 |
| K/R | rs764684882 |
-0.224 | 0.002 | N | 0.141 | 0.139 | 0.347879110917 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| K/R | rs764684882 |
-0.224 | 0.002 | N | 0.141 | 0.139 | 0.347879110917 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| K/R | rs764684882 |
-0.224 | 0.002 | N | 0.141 | 0.139 | 0.347879110917 | gnomAD-4.0.0 | 1.98331E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71252E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.594 | likely_pathogenic | 0.5855 | pathogenic | -0.633 | Destabilizing | 0.4 | N | 0.559 | neutral | None | None | None | None | I |
| K/C | 0.8989 | likely_pathogenic | 0.884 | pathogenic | -0.756 | Destabilizing | 0.992 | D | 0.56 | neutral | None | None | None | None | I |
| K/D | 0.8816 | likely_pathogenic | 0.8883 | pathogenic | -0.6 | Destabilizing | 0.617 | D | 0.575 | neutral | None | None | None | None | I |
| K/E | 0.3597 | ambiguous | 0.3525 | ambiguous | -0.488 | Destabilizing | 0.334 | N | 0.562 | neutral | N | 0.476277968 | None | None | I |
| K/F | 0.9148 | likely_pathogenic | 0.9093 | pathogenic | -0.361 | Destabilizing | 0.92 | D | 0.579 | neutral | None | None | None | None | I |
| K/G | 0.8028 | likely_pathogenic | 0.8077 | pathogenic | -1.01 | Destabilizing | 0.617 | D | 0.545 | neutral | None | None | None | None | I |
| K/H | 0.4994 | ambiguous | 0.4967 | ambiguous | -1.456 | Destabilizing | 0.012 | N | 0.336 | neutral | None | None | None | None | I |
| K/I | 0.5054 | ambiguous | 0.4796 | ambiguous | 0.35 | Stabilizing | 0.85 | D | 0.583 | neutral | None | None | None | None | I |
| K/L | 0.5734 | likely_pathogenic | 0.5655 | pathogenic | 0.35 | Stabilizing | 0.617 | D | 0.546 | neutral | None | None | None | None | I |
| K/M | 0.3954 | ambiguous | 0.3705 | ambiguous | 0.323 | Stabilizing | 0.963 | D | 0.569 | neutral | N | 0.480785284 | None | None | I |
| K/N | 0.6447 | likely_pathogenic | 0.6621 | pathogenic | -0.712 | Destabilizing | 0.549 | D | 0.53 | neutral | N | 0.480091851 | None | None | I |
| K/P | 0.9545 | likely_pathogenic | 0.9509 | pathogenic | 0.052 | Stabilizing | 0.92 | D | 0.615 | neutral | None | None | None | None | I |
| K/Q | 0.2224 | likely_benign | 0.2177 | benign | -0.821 | Destabilizing | 0.549 | D | 0.57 | neutral | N | 0.479398418 | None | None | I |
| K/R | 0.1328 | likely_benign | 0.1257 | benign | -0.816 | Destabilizing | 0.002 | N | 0.141 | neutral | N | 0.46150609 | None | None | I |
| K/S | 0.6089 | likely_pathogenic | 0.6143 | pathogenic | -1.319 | Destabilizing | 0.447 | N | 0.557 | neutral | None | None | None | None | I |
| K/T | 0.2591 | likely_benign | 0.2465 | benign | -1.001 | Destabilizing | 0.016 | N | 0.341 | neutral | N | 0.476624684 | None | None | I |
| K/V | 0.5452 | ambiguous | 0.5144 | ambiguous | 0.052 | Stabilizing | 0.617 | D | 0.559 | neutral | None | None | None | None | I |
| K/W | 0.9329 | likely_pathogenic | 0.9243 | pathogenic | -0.255 | Destabilizing | 0.992 | D | 0.595 | neutral | None | None | None | None | I |
| K/Y | 0.8114 | likely_pathogenic | 0.7982 | pathogenic | 0.071 | Stabilizing | 0.85 | D | 0.576 | 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.