Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31742 | 95449;95450;95451 | chr2:178546012;178546011;178546010 | chr2:179410739;179410738;179410737 |
| N2AB | 30101 | 90526;90527;90528 | chr2:178546012;178546011;178546010 | chr2:179410739;179410738;179410737 |
| N2A | 29174 | 87745;87746;87747 | chr2:178546012;178546011;178546010 | chr2:179410739;179410738;179410737 |
| N2B | 22677 | 68254;68255;68256 | chr2:178546012;178546011;178546010 | chr2:179410739;179410738;179410737 |
| Novex-1 | 22802 | 68629;68630;68631 | chr2:178546012;178546011;178546010 | chr2:179410739;179410738;179410737 |
| Novex-2 | 22869 | 68830;68831;68832 | chr2:178546012;178546011;178546010 | chr2:179410739;179410738;179410737 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | None | None | 1.0 | N | 0.722 | 0.505 | 0.439763647824 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79894E-06 | 0 | 0 |
| H/Q | rs771123318  |
-0.266 | 1.0 | N | 0.686 | 0.442 | 0.453024522228 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs771123318 |
-0.266 | 1.0 | N | 0.686 | 0.442 | 0.453024522228 | 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 |
| H/Q | rs771123318 |
-0.266 | 1.0 | N | 0.686 | 0.442 | 0.453024522228 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | N | None | 2.41208E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs774491202 |
-1.008 | 1.0 | N | 0.659 | 0.496 | 0.347217280506 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs774491202 |
-1.008 | 1.0 | N | 0.659 | 0.496 | 0.347217280506 | 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 |
| H/R | rs774491202 |
-1.008 | 1.0 | N | 0.659 | 0.496 | 0.347217280506 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 2.41243E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.6306 | likely_pathogenic | 0.5226 | ambiguous | -1.041 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| H/C | 0.289 | likely_benign | 0.2414 | benign | -0.19 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| H/D | 0.5909 | likely_pathogenic | 0.4798 | ambiguous | -0.702 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.474545109 | None | None | N |
| H/E | 0.7634 | likely_pathogenic | 0.6778 | pathogenic | -0.572 | Destabilizing | 0.999 | D | 0.501 | neutral | None | None | None | None | N |
| H/F | 0.6211 | likely_pathogenic | 0.5388 | ambiguous | 0.4 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| H/G | 0.4715 | ambiguous | 0.337 | benign | -1.428 | Destabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| H/I | 0.941 | likely_pathogenic | 0.9019 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| H/K | 0.719 | likely_pathogenic | 0.6249 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| H/L | 0.6626 | likely_pathogenic | 0.554 | ambiguous | 0.052 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.502057113 | None | None | N |
| H/M | 0.8914 | likely_pathogenic | 0.8431 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| H/N | 0.193 | likely_benign | 0.1487 | benign | -0.893 | Destabilizing | 0.999 | D | 0.497 | neutral | N | 0.436593711 | None | None | N |
| H/P | 0.9711 | likely_pathogenic | 0.955 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.513920397 | None | None | N |
| H/Q | 0.5493 | ambiguous | 0.4492 | ambiguous | -0.593 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.486154904 | None | None | N |
| H/R | 0.3645 | ambiguous | 0.2797 | benign | -1.076 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.501239835 | None | None | N |
| H/S | 0.3262 | likely_benign | 0.2558 | benign | -0.983 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| H/T | 0.6781 | likely_pathogenic | 0.568 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| H/V | 0.8775 | likely_pathogenic | 0.8149 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| H/W | 0.6479 | likely_pathogenic | 0.6062 | pathogenic | 0.78 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| H/Y | 0.1898 | likely_benign | 0.1611 | benign | 0.809 | Stabilizing | 0.999 | D | 0.537 | neutral | N | 0.471034358 | 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.