Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17196 | 51811;51812;51813 | chr2:178609837;178609836;178609835 | chr2:179474564;179474563;179474562 |
| N2AB | 15555 | 46888;46889;46890 | chr2:178609837;178609836;178609835 | chr2:179474564;179474563;179474562 |
| N2A | 14628 | 44107;44108;44109 | chr2:178609837;178609836;178609835 | chr2:179474564;179474563;179474562 |
| N2B | 8131 | 24616;24617;24618 | chr2:178609837;178609836;178609835 | chr2:179474564;179474563;179474562 |
| Novex-1 | 8256 | 24991;24992;24993 | chr2:178609837;178609836;178609835 | chr2:179474564;179474563;179474562 |
| Novex-2 | 8323 | 25192;25193;25194 | chr2:178609837;178609836;178609835 | chr2:179474564;179474563;179474562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | rs751398376  |
0.024 | 1.0 | N | 0.813 | 0.424 | 0.610589977033 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| R/I | rs751398376 |
0.024 | 1.0 | N | 0.813 | 0.424 | 0.610589977033 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/I | rs751398376 |
0.024 | 1.0 | N | 0.813 | 0.424 | 0.610589977033 | gnomAD-4.0.0 | 5.58011E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63176E-06 | 0 | 0 |
| R/K | None | None | 0.997 | N | 0.467 | 0.329 | 0.381409048467 | gnomAD-4.0.0 | 6.8446E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99792E-07 | 0 | 0 |
| R/T | rs751398376 |
-0.792 | 1.0 | N | 0.773 | 0.402 | 0.446310458034 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs751398376 |
-0.792 | 1.0 | N | 0.773 | 0.402 | 0.446310458034 | gnomAD-4.0.0 | 6.8446E-07 | None | None | None | None | N | None | 0 | 2.23654E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7428 | likely_pathogenic | 0.8011 | pathogenic | -0.823 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| R/C | 0.4902 | ambiguous | 0.5517 | ambiguous | -0.751 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| R/D | 0.9363 | likely_pathogenic | 0.9515 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| R/E | 0.7105 | likely_pathogenic | 0.74 | pathogenic | 0.029 | Stabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| R/F | 0.8861 | likely_pathogenic | 0.9083 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/G | 0.7743 | likely_pathogenic | 0.8384 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.478952881 | None | None | N |
| R/H | 0.3283 | likely_benign | 0.4032 | ambiguous | -1.412 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| R/I | 0.5049 | ambiguous | 0.5337 | ambiguous | -0.005 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.515171925 | None | None | N |
| R/K | 0.203 | likely_benign | 0.2356 | benign | -0.85 | Destabilizing | 0.997 | D | 0.467 | neutral | N | 0.434574913 | None | None | N |
| R/L | 0.4806 | ambiguous | 0.5402 | ambiguous | -0.005 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/M | 0.6186 | likely_pathogenic | 0.6789 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/N | 0.8658 | likely_pathogenic | 0.8968 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| R/P | 0.5742 | likely_pathogenic | 0.6468 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/Q | 0.2263 | likely_benign | 0.2735 | benign | -0.476 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| R/S | 0.8804 | likely_pathogenic | 0.9167 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.499258323 | None | None | N |
| R/T | 0.6365 | likely_pathogenic | 0.7067 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.478344333 | None | None | N |
| R/V | 0.5944 | likely_pathogenic | 0.6207 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/W | 0.5706 | likely_pathogenic | 0.6358 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/Y | 0.7628 | likely_pathogenic | 0.8097 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.807 | 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.