Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3049 | 9370;9371;9372 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
| N2AB | 3049 | 9370;9371;9372 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
| N2A | 3049 | 9370;9371;9372 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
| N2B | 3003 | 9232;9233;9234 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
| Novex-1 | 3003 | 9232;9233;9234 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
| Novex-2 | 3003 | 9232;9233;9234 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
| Novex-3 | 3049 | 9370;9371;9372 | chr2:178768691;178768690;178768689 | chr2:179633418;179633417;179633416 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.996 | D | 0.552 | 0.562 | 0.580444438771 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 1.01626E-03 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9678 | likely_pathogenic | 0.9729 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/D | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.81 | Destabilizing | 0.999 | D | 0.857 | deleterious | D | 0.702877142 | None | None | N |
| A/E | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.735 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| A/F | 0.9965 | likely_pathogenic | 0.9973 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/G | 0.3494 | ambiguous | 0.3602 | ambiguous | -1.514 | Destabilizing | 0.996 | D | 0.552 | neutral | D | 0.624305854 | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/I | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.223 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| A/L | 0.9862 | likely_pathogenic | 0.9871 | pathogenic | -0.237 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| A/M | 0.9902 | likely_pathogenic | 0.9915 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/N | 0.9961 | likely_pathogenic | 0.9955 | pathogenic | -1.263 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| A/P | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.497 | Destabilizing | 0.999 | D | 0.858 | deleterious | D | 0.702877142 | None | None | N |
| A/Q | 0.9942 | likely_pathogenic | 0.9948 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/R | 0.9945 | likely_pathogenic | 0.9953 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/S | 0.5218 | ambiguous | 0.5373 | ambiguous | -1.733 | Destabilizing | 0.957 | D | 0.383 | neutral | D | 0.700048163 | None | None | N |
| A/T | 0.9255 | likely_pathogenic | 0.9238 | pathogenic | -1.538 | Destabilizing | 0.992 | D | 0.603 | neutral | D | 0.59703418 | None | None | N |
| A/V | 0.9745 | likely_pathogenic | 0.9746 | pathogenic | -0.497 | Destabilizing | 0.998 | D | 0.628 | neutral | D | 0.631315177 | None | None | N |
| A/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/Y | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.875 | 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.