Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1006 | 3241;3242;3243 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
| N2AB | 1006 | 3241;3242;3243 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
| N2A | 1006 | 3241;3242;3243 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
| N2B | 960 | 3103;3104;3105 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
| Novex-1 | 960 | 3103;3104;3105 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
| Novex-2 | 960 | 3103;3104;3105 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
| Novex-3 | 1006 | 3241;3242;3243 | chr2:178782890;178782889;178782888 | chr2:179647617;179647616;179647615 |
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 | None | None | 0.999 | N | 0.505 | 0.508 | 0.31077124679 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-06 | 0 | 0 |
| F/S | None | None | 1.0 | N | 0.823 | 0.572 | 0.757105107938 | gnomAD-4.0.0 | 1.59061E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 | 0.987 | likely_pathogenic | 0.9869 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| F/C | 0.9894 | likely_pathogenic | 0.9883 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.506392844 | None | None | N |
| F/D | 0.9947 | likely_pathogenic | 0.9942 | pathogenic | 0.425 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/E | 0.9948 | likely_pathogenic | 0.9941 | pathogenic | 0.416 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/G | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/H | 0.9723 | likely_pathogenic | 0.9725 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.9757 | likely_pathogenic | 0.9767 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.502849283 | None | None | N |
| F/K | 0.995 | likely_pathogenic | 0.9949 | pathogenic | -0.248 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/L | 0.9965 | likely_pathogenic | 0.9965 | pathogenic | -0.69 | Destabilizing | 0.999 | D | 0.505 | neutral | N | 0.45421318 | None | None | N |
| F/M | 0.9775 | likely_pathogenic | 0.9774 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/N | 0.9835 | likely_pathogenic | 0.982 | pathogenic | -0.083 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/Q | 0.9923 | likely_pathogenic | 0.9921 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/R | 0.9847 | likely_pathogenic | 0.985 | pathogenic | 0.333 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/S | 0.9763 | likely_pathogenic | 0.9747 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.416461144 | None | None | N |
| F/T | 0.9894 | likely_pathogenic | 0.9883 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.9632 | likely_pathogenic | 0.9638 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.477922482 | None | None | N |
| F/W | 0.9297 | likely_pathogenic | 0.9332 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/Y | 0.6285 | likely_pathogenic | 0.6227 | pathogenic | -0.401 | Destabilizing | 0.999 | D | 0.486 | neutral | N | 0.493630694 | 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.