Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25426 | 76501;76502;76503 | chr2:178569856;178569855;178569854 | chr2:179434583;179434582;179434581 |
| N2AB | 23785 | 71578;71579;71580 | chr2:178569856;178569855;178569854 | chr2:179434583;179434582;179434581 |
| N2A | 22858 | 68797;68798;68799 | chr2:178569856;178569855;178569854 | chr2:179434583;179434582;179434581 |
| N2B | 16361 | 49306;49307;49308 | chr2:178569856;178569855;178569854 | chr2:179434583;179434582;179434581 |
| Novex-1 | 16486 | 49681;49682;49683 | chr2:178569856;178569855;178569854 | chr2:179434583;179434582;179434581 |
| Novex-2 | 16553 | 49882;49883;49884 | chr2:178569856;178569855;178569854 | chr2:179434583;179434582;179434581 |
| 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/S | None | None | 1.0 | D | 0.872 | 0.795 | 0.865666249806 | gnomAD-4.0.0 | 1.59191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0259E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9925 | likely_pathogenic | 0.9905 | pathogenic | -3.524 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/C | 0.9951 | likely_pathogenic | 0.9939 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.681170586 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.763 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.642 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/F | 0.6212 | likely_pathogenic | 0.6353 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/G | 0.9735 | likely_pathogenic | 0.9663 | pathogenic | -3.771 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.681170586 | None | None | N |
| W/H | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -2.818 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/I | 0.9886 | likely_pathogenic | 0.9875 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.75 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/L | 0.9711 | likely_pathogenic | 0.9644 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.664949421 | None | None | N |
| W/M | 0.9936 | likely_pathogenic | 0.9923 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.42 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.918 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.27 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.681170586 | None | None | N |
| W/S | 0.9918 | likely_pathogenic | 0.9896 | pathogenic | -3.596 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.665151225 | None | None | N |
| W/T | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -3.397 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/V | 0.9854 | likely_pathogenic | 0.9833 | pathogenic | -2.918 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/Y | 0.9352 | likely_pathogenic | 0.9411 | pathogenic | -2.065 | Highly Destabilizing | 1.0 | D | 0.846 | 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.