Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22203 | 66832;66833;66834 | chr2:178581661;178581660;178581659 | chr2:179446388;179446387;179446386 |
| N2AB | 20562 | 61909;61910;61911 | chr2:178581661;178581660;178581659 | chr2:179446388;179446387;179446386 |
| N2A | 19635 | 59128;59129;59130 | chr2:178581661;178581660;178581659 | chr2:179446388;179446387;179446386 |
| N2B | 13138 | 39637;39638;39639 | chr2:178581661;178581660;178581659 | chr2:179446388;179446387;179446386 |
| Novex-1 | 13263 | 40012;40013;40014 | chr2:178581661;178581660;178581659 | chr2:179446388;179446387;179446386 |
| Novex-2 | 13330 | 40213;40214;40215 | chr2:178581661;178581660;178581659 | chr2:179446388;179446387;179446386 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.649 | 0.615 | 0.589575366164 | gnomAD-4.0.0 | 1.59364E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86198E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9928 | likely_pathogenic | 0.9949 | pathogenic | -3.15 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/C | 0.9978 | likely_pathogenic | 0.9982 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.550342717 | None | None | N |
| W/D | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/E | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/F | 0.6757 | likely_pathogenic | 0.687 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| W/G | 0.9737 | likely_pathogenic | 0.9796 | pathogenic | -3.328 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.549582248 | None | None | N |
| W/H | 0.9924 | likely_pathogenic | 0.9939 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| W/I | 0.9906 | likely_pathogenic | 0.9932 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/K | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.627 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| W/L | 0.9763 | likely_pathogenic | 0.9818 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.518093772 | None | None | N |
| W/M | 0.9934 | likely_pathogenic | 0.9949 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| W/N | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/P | 0.9935 | likely_pathogenic | 0.9952 | pathogenic | -2.726 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/R | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.537972453 | None | None | N |
| W/S | 0.9905 | likely_pathogenic | 0.9929 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.526109169 | None | None | N |
| W/T | 0.9919 | likely_pathogenic | 0.9945 | pathogenic | -2.2 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/V | 0.989 | likely_pathogenic | 0.9921 | pathogenic | -2.726 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8781 | likely_pathogenic | 0.8955 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.551 | 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.