Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24195 | 72808;72809;72810 | chr2:178573549;178573548;178573547 | chr2:179438276;179438275;179438274 |
| N2AB | 22554 | 67885;67886;67887 | chr2:178573549;178573548;178573547 | chr2:179438276;179438275;179438274 |
| N2A | 21627 | 65104;65105;65106 | chr2:178573549;178573548;178573547 | chr2:179438276;179438275;179438274 |
| N2B | 15130 | 45613;45614;45615 | chr2:178573549;178573548;178573547 | chr2:179438276;179438275;179438274 |
| Novex-1 | 15255 | 45988;45989;45990 | chr2:178573549;178573548;178573547 | chr2:179438276;179438275;179438274 |
| Novex-2 | 15322 | 46189;46190;46191 | chr2:178573549;178573548;178573547 | chr2:179438276;179438275;179438274 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/Y | None | None | 0.999 | N | 0.593 | 0.476 | 0.660345337224 | gnomAD-4.0.0 | 1.48632E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.88982E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9959 | likely_pathogenic | 0.9963 | pathogenic | -2.366 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| F/C | 0.9634 | likely_pathogenic | 0.9645 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.567381605 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.261 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.008 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/G | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -2.841 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| F/H | 0.9969 | likely_pathogenic | 0.9962 | pathogenic | -1.946 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/I | 0.8654 | likely_pathogenic | 0.8896 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.510948337 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.141 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/L | 0.9817 | likely_pathogenic | 0.9858 | pathogenic | -0.805 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.509417854 | None | None | N |
| F/M | 0.9516 | likely_pathogenic | 0.9569 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/N | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.88 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.615 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/S | 0.9968 | likely_pathogenic | 0.9966 | pathogenic | -3.325 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.567381605 | None | None | N |
| F/T | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| F/V | 0.8937 | likely_pathogenic | 0.9061 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.503854312 | None | None | N |
| F/W | 0.953 | likely_pathogenic | 0.9512 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/Y | 0.8277 | likely_pathogenic | 0.8192 | pathogenic | -0.65 | Destabilizing | 0.999 | D | 0.593 | neutral | N | 0.51608058 | 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.