Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3164 | 9715;9716;9717 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
| N2AB | 3164 | 9715;9716;9717 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
| N2A | 3164 | 9715;9716;9717 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
| N2B | 3118 | 9577;9578;9579 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
| Novex-1 | 3118 | 9577;9578;9579 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
| Novex-2 | 3118 | 9577;9578;9579 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
| Novex-3 | 3164 | 9715;9716;9717 | chr2:178766594;178766593;178766592 | chr2:179631321;179631320;179631319 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.998 | N | 0.853 | 0.458 | 0.335164054921 | gnomAD-4.0.0 | 1.20056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31274E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8427 | likely_pathogenic | 0.8911 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/D | 0.9798 | likely_pathogenic | 0.9957 | pathogenic | -0.675 | Destabilizing | 0.998 | D | 0.853 | deleterious | N | 0.448029844 | None | None | N |
| A/E | 0.9668 | likely_pathogenic | 0.9924 | pathogenic | -0.623 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| A/F | 0.9324 | likely_pathogenic | 0.9822 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| A/G | 0.5296 | ambiguous | 0.5487 | ambiguous | -1.002 | Destabilizing | 0.992 | D | 0.555 | neutral | N | 0.447667278 | None | None | N |
| A/H | 0.9822 | likely_pathogenic | 0.9963 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/I | 0.8281 | likely_pathogenic | 0.9418 | pathogenic | 0.154 | Stabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| A/K | 0.9922 | likely_pathogenic | 0.9985 | pathogenic | -0.874 | Destabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | N |
| A/L | 0.7393 | likely_pathogenic | 0.8866 | pathogenic | 0.154 | Stabilizing | 0.997 | D | 0.728 | prob.delet. | None | None | None | None | N |
| A/M | 0.7849 | likely_pathogenic | 0.9305 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/N | 0.9643 | likely_pathogenic | 0.9923 | pathogenic | -0.791 | Destabilizing | 0.998 | D | 0.862 | deleterious | None | None | None | None | N |
| A/P | 0.9882 | likely_pathogenic | 0.9938 | pathogenic | -0.071 | Destabilizing | 0.999 | D | 0.857 | deleterious | N | 0.448029844 | None | None | N |
| A/Q | 0.9642 | likely_pathogenic | 0.9897 | pathogenic | -0.782 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| A/R | 0.98 | likely_pathogenic | 0.9945 | pathogenic | -0.766 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| A/S | 0.379 | ambiguous | 0.5515 | ambiguous | -1.27 | Destabilizing | 0.916 | D | 0.32 | neutral | N | 0.375178776 | None | None | N |
| A/T | 0.4489 | ambiguous | 0.7234 | pathogenic | -1.091 | Destabilizing | 0.984 | D | 0.605 | neutral | N | 0.409810833 | None | None | N |
| A/V | 0.4961 | ambiguous | 0.7203 | pathogenic | -0.071 | Destabilizing | 0.996 | D | 0.621 | neutral | N | 0.314047827 | None | None | N |
| A/W | 0.9939 | likely_pathogenic | 0.9987 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/Y | 0.9738 | likely_pathogenic | 0.9943 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.891 | 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.