Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1363 | 4312;4313;4314 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
| N2AB | 1363 | 4312;4313;4314 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
| N2A | 1363 | 4312;4313;4314 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
| N2B | 1317 | 4174;4175;4176 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
| Novex-1 | 1317 | 4174;4175;4176 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
| Novex-2 | 1317 | 4174;4175;4176 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
| Novex-3 | 1363 | 4312;4313;4314 | chr2:178778995;178778994;178778993 | chr2:179643722;179643721;179643720 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs768249663  |
-1.379 | 0.999 | N | 0.599 | 0.504 | None | gnomAD-2.1.1 | 2.13E-05 | None | None | None | None | N | None | 0 | 2.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.89E-05 | 0 |
| T/A | rs768249663 |
-1.379 | 0.999 | N | 0.599 | 0.504 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| T/A | rs768249663 |
-1.379 | 0.999 | N | 0.599 | 0.504 | None | gnomAD-4.0.0 | 7.2494E-05 | None | None | None | None | N | None | 1.3349E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.40715E-05 | 0 | 8.0023E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.851 | likely_pathogenic | 0.8302 | pathogenic | -1.147 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.492075808 | None | None | N |
| T/C | 0.9666 | likely_pathogenic | 0.9613 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/D | 0.997 | likely_pathogenic | 0.9968 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/E | 0.9934 | likely_pathogenic | 0.9921 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/F | 0.9863 | likely_pathogenic | 0.9852 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/G | 0.9709 | likely_pathogenic | 0.9664 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/H | 0.976 | likely_pathogenic | 0.9717 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/I | 0.9593 | likely_pathogenic | 0.9572 | pathogenic | 0.016 | Stabilizing | 1.0 | D | 0.756 | deleterious | N | 0.49082014 | None | None | N |
| T/K | 0.989 | likely_pathogenic | 0.9876 | pathogenic | 0.315 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/L | 0.8795 | likely_pathogenic | 0.8796 | pathogenic | 0.016 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| T/M | 0.8153 | likely_pathogenic | 0.8134 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/N | 0.9692 | likely_pathogenic | 0.9669 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.599855966 | None | None | N |
| T/P | 0.9929 | likely_pathogenic | 0.993 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.676941107 | None | None | N |
| T/Q | 0.9785 | likely_pathogenic | 0.9727 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/R | 0.982 | likely_pathogenic | 0.9791 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| T/S | 0.8146 | likely_pathogenic | 0.7989 | pathogenic | -0.845 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.461075517 | None | None | N |
| T/V | 0.8303 | likely_pathogenic | 0.8302 | pathogenic | -0.343 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| T/W | 0.9966 | likely_pathogenic | 0.9961 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| T/Y | 0.9875 | likely_pathogenic | 0.9858 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.799 | 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.