Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4673 | 14242;14243;14244 | chr2:178739216;178739215;178739214 | chr2:179603943;179603942;179603941 |
| N2AB | 4356 | 13291;13292;13293 | chr2:178739216;178739215;178739214 | chr2:179603943;179603942;179603941 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4310 | 13153;13154;13155 | chr2:178739216;178739215;178739214 | chr2:179603943;179603942;179603941 |
| Novex-1 | 4435 | 13528;13529;13530 | chr2:178739216;178739215;178739214 | chr2:179603943;179603942;179603941 |
| Novex-2 | 4502 | 13729;13730;13731 | chr2:178739216;178739215;178739214 | chr2:179603943;179603942;179603941 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs374361492  |
-0.683 | 1.0 | D | 0.841 | 0.763 | None | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 3.01E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.58E-05 | 1.56691E-04 |
| G/E | rs374361492 |
-0.683 | 1.0 | D | 0.841 | 0.763 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/E | rs374361492 |
-0.683 | 1.0 | D | 0.841 | 0.763 | None | gnomAD-4.0.0 | 1.14639E-05 | None | None | None | None | N | None | 0 | 1.73786E-05 | None | 0 | 0 | None | 0 | 0 | 1.38503E-05 | 0 | 1.65049E-05 |
| G/R | None | None | 1.0 | D | 0.836 | 0.81 | None | gnomAD-4.0.0 | 1.40995E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.83917E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4024 | ambiguous | 0.4574 | ambiguous | -0.357 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.6541983 | None | None | N |
| G/C | 0.8041 | likely_pathogenic | 0.8764 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/D | 0.753 | likely_pathogenic | 0.828 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/E | 0.8402 | likely_pathogenic | 0.8992 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.76027644 | None | None | N |
| G/F | 0.968 | likely_pathogenic | 0.9799 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/H | 0.9455 | likely_pathogenic | 0.968 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/I | 0.9533 | likely_pathogenic | 0.972 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/K | 0.8948 | likely_pathogenic | 0.9312 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/L | 0.9415 | likely_pathogenic | 0.9611 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/M | 0.9507 | likely_pathogenic | 0.969 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/N | 0.8618 | likely_pathogenic | 0.9116 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/P | 0.9945 | likely_pathogenic | 0.9957 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.8927 | likely_pathogenic | 0.9323 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/R | 0.8307 | likely_pathogenic | 0.8899 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.79613477 | None | None | N |
| G/S | 0.4449 | ambiguous | 0.5534 | ambiguous | -0.988 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/T | 0.8301 | likely_pathogenic | 0.8917 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.8874 | likely_pathogenic | 0.9296 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.826 | deleterious | D | 0.7961901 | None | None | N |
| G/W | 0.9234 | likely_pathogenic | 0.9527 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.9413 | likely_pathogenic | 0.9639 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.797 | 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.