Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17151 | 51676;51677;51678 | chr2:178609972;178609971;178609970 | chr2:179474699;179474698;179474697 |
| N2AB | 15510 | 46753;46754;46755 | chr2:178609972;178609971;178609970 | chr2:179474699;179474698;179474697 |
| N2A | 14583 | 43972;43973;43974 | chr2:178609972;178609971;178609970 | chr2:179474699;179474698;179474697 |
| N2B | 8086 | 24481;24482;24483 | chr2:178609972;178609971;178609970 | chr2:179474699;179474698;179474697 |
| Novex-1 | 8211 | 24856;24857;24858 | chr2:178609972;178609971;178609970 | chr2:179474699;179474698;179474697 |
| Novex-2 | 8278 | 25057;25058;25059 | chr2:178609972;178609971;178609970 | chr2:179474699;179474698;179474697 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs756877904  |
-0.81 | 1.0 | D | 0.907 | 0.725 | 0.772380336078 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| P/S | rs1203114137 |
-2.965 | 1.0 | D | 0.865 | 0.735 | 0.6104159791 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1203114137 |
-2.965 | 1.0 | D | 0.865 | 0.735 | 0.6104159791 | gnomAD-4.0.0 | 1.37013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52678E-05 | None | 0 | 0 | 9.00127E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.917 | likely_pathogenic | 0.8932 | pathogenic | -2.236 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.533117284 | None | None | N |
| P/C | 0.9885 | likely_pathogenic | 0.9906 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.293 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/E | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | -3.032 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/G | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -2.773 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/H | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.575 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.568364743 | None | None | N |
| P/I | 0.9637 | likely_pathogenic | 0.952 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/K | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/L | 0.9731 | likely_pathogenic | 0.9575 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.555234011 | None | None | N |
| P/M | 0.9957 | likely_pathogenic | 0.9934 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/Q | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/R | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.924 | deleterious | D | 0.567857764 | None | None | N |
| P/S | 0.9959 | likely_pathogenic | 0.9936 | pathogenic | -2.778 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.568111253 | None | None | N |
| P/T | 0.9871 | likely_pathogenic | 0.9813 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.567350785 | None | None | N |
| P/V | 0.8783 | likely_pathogenic | 0.8633 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/Y | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.386 | Destabilizing | 1.0 | D | 0.921 | 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.