Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9729 | 29410;29411;29412 | chr2:178706689;178706688;178706687 | chr2:179571416;179571415;179571414 |
| N2AB | 9412 | 28459;28460;28461 | chr2:178706689;178706688;178706687 | chr2:179571416;179571415;179571414 |
| N2A | 8485 | 25678;25679;25680 | chr2:178706689;178706688;178706687 | chr2:179571416;179571415;179571414 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs1060500451  |
None | 1.0 | None | 0.791 | 0.472 | 0.899764585955 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs1060500451 |
None | 1.0 | None | 0.791 | 0.472 | 0.899764585955 | gnomAD-4.0.0 | 1.23966E-06 | None | None | None | None | I | None | 0 | 3.33433E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1060500451 |
None | 0.997 | None | 0.631 | 0.403 | 0.694113019094 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs1060500451 |
None | 0.997 | None | 0.631 | 0.403 | 0.694113019094 | gnomAD-4.0.0 | 1.17768E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61082E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9606 | likely_pathogenic | 0.9315 | pathogenic | -1.736 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | I |
| V/C | 0.98 | likely_pathogenic | 0.9729 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| V/D | 0.9993 | likely_pathogenic | 0.998 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| V/E | 0.9972 | likely_pathogenic | 0.9926 | pathogenic | -2.133 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| V/F | 0.9395 | likely_pathogenic | 0.8559 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/G | 0.9766 | likely_pathogenic | 0.9555 | pathogenic | -2.215 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| V/H | 0.999 | likely_pathogenic | 0.9975 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| V/I | 0.1659 | likely_benign | 0.1335 | benign | -0.421 | Destabilizing | 0.997 | D | 0.631 | neutral | None | None | None | None | I |
| V/K | 0.9966 | likely_pathogenic | 0.9923 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| V/L | 0.8766 | likely_pathogenic | 0.8152 | pathogenic | -0.421 | Destabilizing | 0.997 | D | 0.678 | prob.neutral | None | None | None | None | I |
| V/M | 0.8846 | likely_pathogenic | 0.7904 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| V/N | 0.997 | likely_pathogenic | 0.993 | pathogenic | -1.562 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| V/P | 0.9967 | likely_pathogenic | 0.9911 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| V/Q | 0.996 | likely_pathogenic | 0.9904 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| V/R | 0.9932 | likely_pathogenic | 0.9857 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| V/S | 0.9871 | likely_pathogenic | 0.9735 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| V/T | 0.9432 | likely_pathogenic | 0.9184 | pathogenic | -1.802 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | None | None | None | None | I |
| V/W | 0.9988 | likely_pathogenic | 0.9964 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| V/Y | 0.995 | likely_pathogenic | 0.9872 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
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.