Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27387 | 82384;82385;82386 | chr2:178563973;178563972;178563971 | chr2:179428700;179428699;179428698 |
| N2AB | 25746 | 77461;77462;77463 | chr2:178563973;178563972;178563971 | chr2:179428700;179428699;179428698 |
| N2A | 24819 | 74680;74681;74682 | chr2:178563973;178563972;178563971 | chr2:179428700;179428699;179428698 |
| N2B | 18322 | 55189;55190;55191 | chr2:178563973;178563972;178563971 | chr2:179428700;179428699;179428698 |
| Novex-1 | 18447 | 55564;55565;55566 | chr2:178563973;178563972;178563971 | chr2:179428700;179428699;179428698 |
| Novex-2 | 18514 | 55765;55766;55767 | chr2:178563973;178563972;178563971 | chr2:179428700;179428699;179428698 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs1704671662  |
None | 0.99 | N | 0.844 | 0.555 | 0.819490923677 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5919 | likely_pathogenic | 0.5958 | pathogenic | -1.344 | Destabilizing | 0.717 | D | 0.627 | neutral | None | None | None | None | N |
| C/D | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -1.288 | Destabilizing | 0.978 | D | 0.87 | deleterious | None | None | None | None | N |
| C/E | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.021 | Destabilizing | 0.956 | D | 0.864 | deleterious | None | None | None | None | N |
| C/F | 0.8568 | likely_pathogenic | 0.8499 | pathogenic | -0.89 | Destabilizing | 0.99 | D | 0.843 | deleterious | N | 0.464692833 | None | None | N |
| C/G | 0.5839 | likely_pathogenic | 0.5556 | ambiguous | -1.715 | Destabilizing | 0.942 | D | 0.821 | deleterious | N | 0.493699321 | None | None | N |
| C/H | 0.9962 | likely_pathogenic | 0.9949 | pathogenic | -2.016 | Highly Destabilizing | 0.994 | D | 0.849 | deleterious | None | None | None | None | N |
| C/I | 0.7153 | likely_pathogenic | 0.7392 | pathogenic | -0.336 | Destabilizing | 0.978 | D | 0.818 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.558 | Destabilizing | 0.754 | D | 0.798 | deleterious | None | None | None | None | N |
| C/L | 0.7274 | likely_pathogenic | 0.7377 | pathogenic | -0.336 | Destabilizing | 0.86 | D | 0.758 | deleterious | None | None | None | None | N |
| C/M | 0.84 | likely_pathogenic | 0.8414 | pathogenic | -0.001 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| C/N | 0.9901 | likely_pathogenic | 0.987 | pathogenic | -1.325 | Destabilizing | 0.956 | D | 0.869 | deleterious | None | None | None | None | N |
| C/P | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -0.649 | Destabilizing | 0.993 | D | 0.86 | deleterious | None | None | None | None | N |
| C/Q | 0.9962 | likely_pathogenic | 0.9953 | pathogenic | -0.763 | Destabilizing | 0.956 | D | 0.864 | deleterious | None | None | None | None | N |
| C/R | 0.9941 | likely_pathogenic | 0.9929 | pathogenic | -1.213 | Destabilizing | 0.032 | N | 0.653 | neutral | N | 0.512817534 | None | None | N |
| C/S | 0.7717 | likely_pathogenic | 0.7448 | pathogenic | -1.546 | Destabilizing | 0.822 | D | 0.796 | deleterious | N | 0.480216648 | None | None | N |
| C/T | 0.839 | likely_pathogenic | 0.8407 | pathogenic | -1.077 | Destabilizing | 0.86 | D | 0.799 | deleterious | None | None | None | None | N |
| C/V | 0.5399 | ambiguous | 0.5744 | pathogenic | -0.649 | Destabilizing | 0.926 | D | 0.793 | deleterious | None | None | None | None | N |
| C/W | 0.9909 | likely_pathogenic | 0.9898 | pathogenic | -1.311 | Destabilizing | 0.997 | D | 0.825 | deleterious | N | 0.512817534 | None | None | N |
| C/Y | 0.9638 | likely_pathogenic | 0.9546 | pathogenic | -1.029 | Destabilizing | 0.99 | D | 0.844 | deleterious | N | 0.500954249 | 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.