Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2097 | 6514;6515;6516 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
| N2AB | 2097 | 6514;6515;6516 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
| N2A | 2097 | 6514;6515;6516 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
| N2B | 2051 | 6376;6377;6378 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
| Novex-1 | 2051 | 6376;6377;6378 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
| Novex-2 | 2051 | 6376;6377;6378 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
| Novex-3 | 2097 | 6514;6515;6516 | chr2:178775575;178775574;178775573 | chr2:179640302;179640301;179640300 |
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 | rs2092132864  |
None | 0.999 | N | 0.691 | 0.601 | 0.466230903105 | gnomAD-4.0.0 | 1.36819E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 8.99302E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.692 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/C | 0.9939 | likely_pathogenic | 0.9926 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.800942515 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.436 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.193 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| F/G | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -3.167 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| F/H | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/I | 0.9617 | likely_pathogenic | 0.9625 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.55970218 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/L | 0.9926 | likely_pathogenic | 0.9927 | pathogenic | -1.126 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.495495211 | None | None | N |
| F/M | 0.9847 | likely_pathogenic | 0.9807 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| F/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.781 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| F/R | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| F/S | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.321 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.800942515 | None | None | N |
| F/T | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.953 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/V | 0.9782 | likely_pathogenic | 0.9787 | pathogenic | -1.663 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.638290558 | None | None | N |
| F/W | 0.9804 | likely_pathogenic | 0.9749 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| F/Y | 0.845 | likely_pathogenic | 0.8323 | pathogenic | -0.723 | Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.742989258 | 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.