Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32067 | 96424;96425;96426 | chr2:178543945;178543944;178543943 | chr2:179408672;179408671;179408670 |
| N2AB | 30426 | 91501;91502;91503 | chr2:178543945;178543944;178543943 | chr2:179408672;179408671;179408670 |
| N2A | 29499 | 88720;88721;88722 | chr2:178543945;178543944;178543943 | chr2:179408672;179408671;179408670 |
| N2B | 23002 | 69229;69230;69231 | chr2:178543945;178543944;178543943 | chr2:179408672;179408671;179408670 |
| Novex-1 | 23127 | 69604;69605;69606 | chr2:178543945;178543944;178543943 | chr2:179408672;179408671;179408670 |
| Novex-2 | 23194 | 69805;69806;69807 | chr2:178543945;178543944;178543943 | chr2:179408672;179408671;179408670 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | N | 0.683 | 0.433 | 0.509168631294 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85876E-06 | 0 | 0 |
| Y/H | None | None | 0.998 | N | 0.539 | 0.295 | 0.345859378078 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.6234 | likely_pathogenic | 0.5645 | pathogenic | -2.099 | Highly Destabilizing | 0.942 | D | 0.565 | neutral | None | None | None | None | N |
| Y/C | 0.1786 | likely_benign | 0.1554 | benign | -0.926 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.487681019 | None | None | N |
| Y/D | 0.6423 | likely_pathogenic | 0.5457 | ambiguous | -0.657 | Destabilizing | 0.989 | D | 0.687 | prob.neutral | N | 0.472469658 | None | None | N |
| Y/E | 0.8828 | likely_pathogenic | 0.838 | pathogenic | -0.618 | Destabilizing | 0.991 | D | 0.579 | neutral | None | None | None | None | N |
| Y/F | 0.1018 | likely_benign | 0.1012 | benign | -1.239 | Destabilizing | 0.071 | N | 0.275 | neutral | N | 0.483188084 | None | None | N |
| Y/G | 0.5641 | likely_pathogenic | 0.4958 | ambiguous | -2.375 | Highly Destabilizing | 0.97 | D | 0.597 | neutral | None | None | None | None | N |
| Y/H | 0.3015 | likely_benign | 0.2596 | benign | -0.887 | Destabilizing | 0.998 | D | 0.539 | neutral | N | 0.503774 | None | None | N |
| Y/I | 0.6913 | likely_pathogenic | 0.6494 | pathogenic | -1.291 | Destabilizing | 0.991 | D | 0.571 | neutral | None | None | None | None | N |
| Y/K | 0.85 | likely_pathogenic | 0.7954 | pathogenic | -0.745 | Destabilizing | 0.991 | D | 0.587 | neutral | None | None | None | None | N |
| Y/L | 0.6493 | likely_pathogenic | 0.6027 | pathogenic | -1.291 | Destabilizing | 0.942 | D | 0.563 | neutral | None | None | None | None | N |
| Y/M | 0.7098 | likely_pathogenic | 0.6829 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| Y/N | 0.353 | ambiguous | 0.2933 | benign | -0.855 | Destabilizing | 0.989 | D | 0.667 | neutral | N | 0.454961333 | None | None | N |
| Y/P | 0.9845 | likely_pathogenic | 0.9755 | pathogenic | -1.551 | Destabilizing | 0.996 | D | 0.706 | prob.neutral | None | None | None | None | N |
| Y/Q | 0.7404 | likely_pathogenic | 0.671 | pathogenic | -0.952 | Destabilizing | 0.996 | D | 0.625 | neutral | None | None | None | None | N |
| Y/R | 0.697 | likely_pathogenic | 0.6255 | pathogenic | -0.183 | Destabilizing | 0.996 | D | 0.673 | neutral | None | None | None | None | N |
| Y/S | 0.2488 | likely_benign | 0.2073 | benign | -1.491 | Destabilizing | 0.689 | D | 0.395 | neutral | N | 0.450843592 | None | None | N |
| Y/T | 0.5125 | ambiguous | 0.4553 | ambiguous | -1.356 | Destabilizing | 0.983 | D | 0.563 | neutral | None | None | None | None | N |
| Y/V | 0.5399 | ambiguous | 0.5012 | ambiguous | -1.551 | Destabilizing | 0.97 | D | 0.569 | neutral | None | None | None | None | N |
| Y/W | 0.4541 | ambiguous | 0.4375 | ambiguous | -0.915 | Destabilizing | 1.0 | D | 0.526 | neutral | 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.