Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30005 | 90238;90239;90240 | chr2:178552887;178552886;178552885 | chr2:179417614;179417613;179417612 |
| N2AB | 28364 | 85315;85316;85317 | chr2:178552887;178552886;178552885 | chr2:179417614;179417613;179417612 |
| N2A | 27437 | 82534;82535;82536 | chr2:178552887;178552886;178552885 | chr2:179417614;179417613;179417612 |
| N2B | 20940 | 63043;63044;63045 | chr2:178552887;178552886;178552885 | chr2:179417614;179417613;179417612 |
| Novex-1 | 21065 | 63418;63419;63420 | chr2:178552887;178552886;178552885 | chr2:179417614;179417613;179417612 |
| Novex-2 | 21132 | 63619;63620;63621 | chr2:178552887;178552886;178552885 | chr2:179417614;179417613;179417612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 1.0 | D | 0.813 | 0.7 | 0.868488552877 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9942 | likely_pathogenic | 0.9912 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/C | 0.9529 | likely_pathogenic | 0.9138 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.563925338 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.027 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.79 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/G | 0.997 | likely_pathogenic | 0.996 | pathogenic | -2.383 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/H | 0.9927 | likely_pathogenic | 0.9913 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/I | 0.8381 | likely_pathogenic | 0.7459 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.511606674 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| F/L | 0.9706 | likely_pathogenic | 0.9497 | pathogenic | -0.528 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.513861626 | None | None | N |
| F/M | 0.9613 | likely_pathogenic | 0.9434 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/N | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/Q | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -2.505 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/R | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/S | 0.9946 | likely_pathogenic | 0.9922 | pathogenic | -3.167 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.563925338 | None | None | N |
| F/T | 0.9956 | likely_pathogenic | 0.9938 | pathogenic | -2.801 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/V | 0.8555 | likely_pathogenic | 0.7748 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.512248103 | None | None | N |
| F/W | 0.9358 | likely_pathogenic | 0.9244 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| F/Y | 0.6917 | likely_pathogenic | 0.6512 | pathogenic | -0.599 | Destabilizing | 0.999 | D | 0.594 | neutral | D | 0.523157698 | 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.