Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25273 | 76042;76043;76044 | chr2:178570315;178570314;178570313 | chr2:179435042;179435041;179435040 |
| N2AB | 23632 | 71119;71120;71121 | chr2:178570315;178570314;178570313 | chr2:179435042;179435041;179435040 |
| N2A | 22705 | 68338;68339;68340 | chr2:178570315;178570314;178570313 | chr2:179435042;179435041;179435040 |
| N2B | 16208 | 48847;48848;48849 | chr2:178570315;178570314;178570313 | chr2:179435042;179435041;179435040 |
| Novex-1 | 16333 | 49222;49223;49224 | chr2:178570315;178570314;178570313 | chr2:179435042;179435041;179435040 |
| Novex-2 | 16400 | 49423;49424;49425 | chr2:178570315;178570314;178570313 | chr2:179435042;179435041;179435040 |
| 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/D | None | None | 0.999 | N | 0.527 | 0.523 | 0.385743280973 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| N/S | None | None | 0.999 | N | 0.469 | 0.426 | 0.245101548738 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-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 | 0.7119 | likely_pathogenic | 0.7617 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| N/C | 0.4375 | ambiguous | 0.5406 | ambiguous | -0.061 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| N/D | 0.7105 | likely_pathogenic | 0.7719 | pathogenic | -0.593 | Destabilizing | 0.999 | D | 0.527 | neutral | N | 0.499993198 | None | None | N |
| N/E | 0.8957 | likely_pathogenic | 0.9273 | pathogenic | -0.484 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| N/F | 0.9075 | likely_pathogenic | 0.934 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| N/G | 0.6808 | likely_pathogenic | 0.7271 | pathogenic | -1.372 | Destabilizing | 0.999 | D | 0.454 | neutral | None | None | None | None | N |
| N/H | 0.2751 | likely_benign | 0.3735 | ambiguous | -0.983 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.485753095 | None | None | N |
| N/I | 0.7464 | likely_pathogenic | 0.7904 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.472013894 | None | None | N |
| N/K | 0.8545 | likely_pathogenic | 0.8945 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.472418438 | None | None | N |
| N/L | 0.7345 | likely_pathogenic | 0.7816 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| N/M | 0.7567 | likely_pathogenic | 0.8117 | pathogenic | 0.336 | Stabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| N/P | 0.9778 | likely_pathogenic | 0.9812 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| N/Q | 0.7719 | likely_pathogenic | 0.833 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| N/R | 0.7997 | likely_pathogenic | 0.8538 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| N/S | 0.1932 | likely_benign | 0.2393 | benign | -1.017 | Destabilizing | 0.999 | D | 0.469 | neutral | N | 0.493004354 | None | None | N |
| N/T | 0.5626 | ambiguous | 0.636 | pathogenic | -0.709 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.422098687 | None | None | N |
| N/V | 0.6914 | likely_pathogenic | 0.7508 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| N/W | 0.9627 | likely_pathogenic | 0.9719 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| N/Y | 0.5526 | ambiguous | 0.6198 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.500500177 | 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.