Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20039 | 60340;60341;60342 | chr2:178591704;178591703;178591702 | chr2:179456431;179456430;179456429 |
| N2AB | 18398 | 55417;55418;55419 | chr2:178591704;178591703;178591702 | chr2:179456431;179456430;179456429 |
| N2A | 17471 | 52636;52637;52638 | chr2:178591704;178591703;178591702 | chr2:179456431;179456430;179456429 |
| N2B | 10974 | 33145;33146;33147 | chr2:178591704;178591703;178591702 | chr2:179456431;179456430;179456429 |
| Novex-1 | 11099 | 33520;33521;33522 | chr2:178591704;178591703;178591702 | chr2:179456431;179456430;179456429 |
| Novex-2 | 11166 | 33721;33722;33723 | chr2:178591704;178591703;178591702 | chr2:179456431;179456430;179456429 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs2050244000  |
None | 1.0 | N | 0.803 | 0.509 | 0.724626463931 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 0 |
| G/V | None | None | 1.0 | N | 0.785 | 0.514 | 0.753156384521 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2399 | likely_benign | 0.2461 | benign | -0.327 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | N | 0.507713242 | None | None | N |
| G/C | 0.4712 | ambiguous | 0.5236 | ambiguous | -0.91 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/D | 0.2051 | likely_benign | 0.1977 | benign | -0.499 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/E | 0.3028 | likely_benign | 0.3236 | benign | -0.605 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.481758174 | None | None | N |
| G/F | 0.8621 | likely_pathogenic | 0.8671 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/H | 0.519 | ambiguous | 0.5387 | ambiguous | -0.614 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/I | 0.7328 | likely_pathogenic | 0.7583 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/K | 0.5388 | ambiguous | 0.5734 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/L | 0.7316 | likely_pathogenic | 0.7425 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/M | 0.7256 | likely_pathogenic | 0.743 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/N | 0.2449 | likely_benign | 0.2469 | benign | -0.6 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/P | 0.9571 | likely_pathogenic | 0.9619 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/Q | 0.4314 | ambiguous | 0.4425 | ambiguous | -0.789 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/R | 0.4561 | ambiguous | 0.4981 | ambiguous | -0.538 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.490849981 | None | None | N |
| G/S | 0.1435 | likely_benign | 0.1357 | benign | -0.822 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/T | 0.3243 | likely_benign | 0.3323 | benign | -0.836 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/V | 0.5795 | likely_pathogenic | 0.6124 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.519830016 | None | None | N |
| G/W | 0.7649 | likely_pathogenic | 0.7919 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/Y | 0.7214 | likely_pathogenic | 0.7372 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.777 | deleterious | 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.