Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29873 | 89842;89843;89844 | chr2:178553283;178553282;178553281 | chr2:179418010;179418009;179418008 |
| N2AB | 28232 | 84919;84920;84921 | chr2:178553283;178553282;178553281 | chr2:179418010;179418009;179418008 |
| N2A | 27305 | 82138;82139;82140 | chr2:178553283;178553282;178553281 | chr2:179418010;179418009;179418008 |
| N2B | 20808 | 62647;62648;62649 | chr2:178553283;178553282;178553281 | chr2:179418010;179418009;179418008 |
| Novex-1 | 20933 | 63022;63023;63024 | chr2:178553283;178553282;178553281 | chr2:179418010;179418009;179418008 |
| Novex-2 | 21000 | 63223;63224;63225 | chr2:178553283;178553282;178553281 | chr2:179418010;179418009;179418008 |
| 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/G | None | None | 1.0 | D | 0.822 | 0.913 | 0.932922261461 | gnomAD-4.0.0 | 2.05765E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69837E-06 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.879 | 0.906 | 0.948843343272 | gnomAD-4.0.0 | 1.37177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.0388E-05 | None | 0 | 0 | 0 | 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 | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | -2.894 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.721174295 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.992 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/F | 0.7285 | likely_pathogenic | 0.7456 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/G | 0.9901 | likely_pathogenic | 0.9906 | pathogenic | -3.154 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.720972491 | None | None | N |
| W/H | 0.9975 | likely_pathogenic | 0.9979 | pathogenic | -2.237 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/I | 0.9778 | likely_pathogenic | 0.9784 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.366 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/L | 0.9627 | likely_pathogenic | 0.9624 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.695434379 | None | None | N |
| W/M | 0.9935 | likely_pathogenic | 0.9932 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/N | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.076 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.834 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.721174295 | None | None | N |
| W/S | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -3.267 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.721174295 | None | None | N |
| W/T | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -3.055 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/V | 0.9861 | likely_pathogenic | 0.986 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/Y | 0.9376 | likely_pathogenic | 0.9437 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.792 | 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.