Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22356 | 67291;67292;67293 | chr2:178580221;178580220;178580219 | chr2:179444948;179444947;179444946 |
| N2AB | 20715 | 62368;62369;62370 | chr2:178580221;178580220;178580219 | chr2:179444948;179444947;179444946 |
| N2A | 19788 | 59587;59588;59589 | chr2:178580221;178580220;178580219 | chr2:179444948;179444947;179444946 |
| N2B | 13291 | 40096;40097;40098 | chr2:178580221;178580220;178580219 | chr2:179444948;179444947;179444946 |
| Novex-1 | 13416 | 40471;40472;40473 | chr2:178580221;178580220;178580219 | chr2:179444948;179444947;179444946 |
| Novex-2 | 13483 | 40672;40673;40674 | chr2:178580221;178580220;178580219 | chr2:179444948;179444947;179444946 |
| 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 | rs763997790  |
-0.969 | 0.997 | N | 0.815 | 0.501 | 0.541648499649 | gnomAD-4.0.0 | 1.59442E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86133E-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 | 0.4766 | ambiguous | 0.4932 | ambiguous | -0.867 | Destabilizing | 0.983 | D | 0.669 | neutral | N | 0.489446586 | None | None | N |
| G/C | 0.8387 | likely_pathogenic | 0.8559 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/D | 0.9242 | likely_pathogenic | 0.9612 | pathogenic | -2.4 | Highly Destabilizing | 0.998 | D | 0.794 | deleterious | None | None | None | None | N |
| G/E | 0.9335 | likely_pathogenic | 0.9574 | pathogenic | -2.402 | Highly Destabilizing | 0.997 | D | 0.795 | deleterious | D | 0.526945316 | None | None | N |
| G/F | 0.9733 | likely_pathogenic | 0.9771 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/H | 0.9818 | likely_pathogenic | 0.9869 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/I | 0.9663 | likely_pathogenic | 0.9675 | pathogenic | -0.388 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| G/K | 0.989 | likely_pathogenic | 0.9916 | pathogenic | -1.322 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| G/L | 0.9344 | likely_pathogenic | 0.9422 | pathogenic | -0.388 | Destabilizing | 0.996 | D | 0.799 | deleterious | None | None | None | None | N |
| G/M | 0.9637 | likely_pathogenic | 0.9664 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/N | 0.9358 | likely_pathogenic | 0.9548 | pathogenic | -1.3 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -0.51 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| G/Q | 0.9576 | likely_pathogenic | 0.9661 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/R | 0.9722 | likely_pathogenic | 0.9777 | pathogenic | -1.04 | Destabilizing | 0.997 | D | 0.815 | deleterious | N | 0.516945364 | None | None | N |
| G/S | 0.3556 | ambiguous | 0.3963 | ambiguous | -1.465 | Destabilizing | 0.996 | D | 0.787 | deleterious | None | None | None | None | N |
| G/T | 0.8611 | likely_pathogenic | 0.8821 | pathogenic | -1.405 | Destabilizing | 0.713 | D | 0.579 | neutral | None | None | None | None | N |
| G/V | 0.9383 | likely_pathogenic | 0.9436 | pathogenic | -0.51 | Destabilizing | 0.995 | D | 0.788 | deleterious | D | 0.522732262 | None | None | N |
| G/W | 0.9725 | likely_pathogenic | 0.9782 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.541090006 | None | None | N |
| G/Y | 0.9706 | likely_pathogenic | 0.9766 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.823 | 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.