Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9901 | 29926;29927;29928 | chr2:178704771;178704770;178704769 | chr2:179569498;179569497;179569496 |
| N2AB | 9584 | 28975;28976;28977 | chr2:178704771;178704770;178704769 | chr2:179569498;179569497;179569496 |
| N2A | 8657 | 26194;26195;26196 | chr2:178704771;178704770;178704769 | chr2:179569498;179569497;179569496 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | None | 0.585 | 0.285 | 0.328486982098 | gnomAD-4.0.0 | 1.37252E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80052E-06 | 0 | 0 |
| T/I | None | None | 1.0 | None | 0.778 | 0.488 | 0.476205827853 | gnomAD-4.0.0 | 1.60235E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43935E-05 | 0 |
| T/P | rs1295313284  |
-0.363 | 1.0 | None | 0.768 | 0.471 | 0.415820034956 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| T/P | rs1295313284 |
-0.363 | 1.0 | None | 0.768 | 0.471 | 0.415820034956 | gnomAD-4.0.0 | 1.64703E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.07059E-05 | 1.16355E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4655 | ambiguous | 0.3947 | ambiguous | -0.468 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | I |
| T/C | 0.9309 | likely_pathogenic | 0.9292 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| T/D | 0.9398 | likely_pathogenic | 0.9001 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| T/E | 0.8222 | likely_pathogenic | 0.753 | pathogenic | 0.201 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| T/F | 0.8503 | likely_pathogenic | 0.792 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| T/G | 0.8962 | likely_pathogenic | 0.8695 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| T/H | 0.7777 | likely_pathogenic | 0.7208 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| T/I | 0.6448 | likely_pathogenic | 0.5692 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| T/K | 0.7693 | likely_pathogenic | 0.6646 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| T/L | 0.4951 | ambiguous | 0.4427 | ambiguous | 0.044 | Stabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | I |
| T/M | 0.3292 | likely_benign | 0.2902 | benign | 0.042 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| T/N | 0.626 | likely_pathogenic | 0.5363 | ambiguous | -0.424 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| T/P | 0.9585 | likely_pathogenic | 0.914 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| T/Q | 0.6952 | likely_pathogenic | 0.6257 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| T/R | 0.7327 | likely_pathogenic | 0.615 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| T/S | 0.4673 | ambiguous | 0.4093 | ambiguous | -0.692 | Destabilizing | 0.999 | D | 0.581 | neutral | None | None | None | None | I |
| T/V | 0.5079 | ambiguous | 0.4633 | ambiguous | -0.094 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | I |
| T/W | 0.9732 | likely_pathogenic | 0.9617 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| T/Y | 0.8548 | likely_pathogenic | 0.8281 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.761 | deleterious | 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.