Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24687 | 74284;74285;74286 | chr2:178572073;178572072;178572071 | chr2:179436800;179436799;179436798 |
| N2AB | 23046 | 69361;69362;69363 | chr2:178572073;178572072;178572071 | chr2:179436800;179436799;179436798 |
| N2A | 22119 | 66580;66581;66582 | chr2:178572073;178572072;178572071 | chr2:179436800;179436799;179436798 |
| N2B | 15622 | 47089;47090;47091 | chr2:178572073;178572072;178572071 | chr2:179436800;179436799;179436798 |
| Novex-1 | 15747 | 47464;47465;47466 | chr2:178572073;178572072;178572071 | chr2:179436800;179436799;179436798 |
| Novex-2 | 15814 | 47665;47666;47667 | chr2:178572073;178572072;178572071 | chr2:179436800;179436799;179436798 |
| 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/L | rs760337531  |
-1.242 | 1.0 | N | 0.692 | 0.51 | 0.573614764001 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| F/L | rs760337531 |
-1.242 | 1.0 | N | 0.692 | 0.51 | 0.573614764001 | gnomAD-4.0.0 | 2.73764E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59842E-06 | 0 | 0 |
| F/Y | rs775051314 |
-1.129 | 1.0 | N | 0.602 | 0.45 | 0.609718080597 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| F/Y | rs775051314 |
-1.129 | 1.0 | N | 0.602 | 0.45 | 0.609718080597 | gnomAD-4.0.0 | 2.73767E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59843E-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 | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -2.838 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/C | 0.9906 | likely_pathogenic | 0.9893 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.557177388 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.799 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.558 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/G | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.303 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/H | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/I | 0.9444 | likely_pathogenic | 0.93 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.489387815 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.637 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/L | 0.9929 | likely_pathogenic | 0.9924 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.502669905 | None | None | N |
| F/M | 0.9826 | likely_pathogenic | 0.9794 | pathogenic | -1.024 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| F/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.348 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.165 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/R | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/S | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -3.826 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.557177388 | None | None | N |
| F/T | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -3.458 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.9485 | likely_pathogenic | 0.9401 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.489206323 | None | None | N |
| F/W | 0.9744 | likely_pathogenic | 0.9722 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| F/Y | 0.8616 | likely_pathogenic | 0.8478 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.508345125 | 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.