Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15512 | 46759;46760;46761 | chr2:178619783;178619782;178619781 | chr2:179484510;179484509;179484508 |
| N2AB | 13871 | 41836;41837;41838 | chr2:178619783;178619782;178619781 | chr2:179484510;179484509;179484508 |
| N2A | 12944 | 39055;39056;39057 | chr2:178619783;178619782;178619781 | chr2:179484510;179484509;179484508 |
| N2B | 6447 | 19564;19565;19566 | chr2:178619783;178619782;178619781 | chr2:179484510;179484509;179484508 |
| Novex-1 | 6572 | 19939;19940;19941 | chr2:178619783;178619782;178619781 | chr2:179484510;179484509;179484508 |
| Novex-2 | 6639 | 20140;20141;20142 | chr2:178619783;178619782;178619781 | chr2:179484510;179484509;179484508 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.862 | 0.915 | 0.929210780582 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -2.75 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.638926815 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.528 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.411 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/F | 0.701 | likely_pathogenic | 0.7381 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/G | 0.9912 | likely_pathogenic | 0.9909 | pathogenic | -2.982 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.638850629 | None | None | N |
| W/H | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/I | 0.9876 | likely_pathogenic | 0.9907 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -2.74 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/L | 0.9668 | likely_pathogenic | 0.9716 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.638850629 | None | None | N |
| W/M | 0.9935 | likely_pathogenic | 0.995 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.529 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.263 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.741 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.638926815 | None | None | N |
| W/S | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -3.544 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.638926815 | None | None | N |
| W/T | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.348 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| W/V | 0.9912 | likely_pathogenic | 0.993 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| W/Y | 0.9282 | likely_pathogenic | 0.9383 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.77 | 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.