Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14708 | 44347;44348;44349 | chr2:178630836;178630835;178630834 | chr2:179495563;179495562;179495561 |
| N2AB | 13067 | 39424;39425;39426 | chr2:178630836;178630835;178630834 | chr2:179495563;179495562;179495561 |
| N2A | 12140 | 36643;36644;36645 | chr2:178630836;178630835;178630834 | chr2:179495563;179495562;179495561 |
| N2B | 5643 | 17152;17153;17154 | chr2:178630836;178630835;178630834 | chr2:179495563;179495562;179495561 |
| Novex-1 | 5768 | 17527;17528;17529 | chr2:178630836;178630835;178630834 | chr2:179495563;179495562;179495561 |
| Novex-2 | 5835 | 17728;17729;17730 | chr2:178630836;178630835;178630834 | chr2:179495563;179495562;179495561 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | None | None | 0.999 | N | 0.703 | 0.246 | 0.136095386433 | 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 |
| K/R | None | None | 0.997 | N | 0.663 | 0.276 | 0.241078983079 | gnomAD-4.0.0 | 6.84408E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99695E-07 | 0 | 0 |
| K/T | rs765822597  |
-1.16 | 0.999 | N | 0.763 | 0.443 | 0.229264304666 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 6.46E-05 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs765822597 |
-1.16 | 0.999 | N | 0.763 | 0.443 | 0.229264304666 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20645E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs765822597 |
-1.16 | 0.999 | N | 0.763 | 0.443 | 0.229264304666 | gnomAD-4.0.0 | 4.33911E-06 | None | None | None | None | N | None | 6.67717E-05 | 1.66756E-05 | None | 0 | 0 | None | 0 | 0 | 8.47824E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7765 | likely_pathogenic | 0.8275 | pathogenic | -0.768 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| K/C | 0.8422 | likely_pathogenic | 0.8764 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| K/D | 0.9243 | likely_pathogenic | 0.9516 | pathogenic | -0.639 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| K/E | 0.5387 | ambiguous | 0.6272 | pathogenic | -0.496 | Destabilizing | 0.997 | D | 0.689 | prob.delet. | N | 0.430867371 | None | None | N |
| K/F | 0.8067 | likely_pathogenic | 0.8244 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| K/G | 0.8651 | likely_pathogenic | 0.8982 | pathogenic | -1.171 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| K/H | 0.417 | ambiguous | 0.4689 | ambiguous | -1.539 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/I | 0.4754 | ambiguous | 0.5157 | ambiguous | 0.296 | Stabilizing | 0.999 | D | 0.884 | deleterious | N | 0.511822823 | None | None | N |
| K/L | 0.4827 | ambiguous | 0.5168 | ambiguous | 0.296 | Stabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| K/M | 0.3101 | likely_benign | 0.3351 | benign | 0.189 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| K/N | 0.716 | likely_pathogenic | 0.7763 | pathogenic | -0.895 | Destabilizing | 0.999 | D | 0.703 | prob.delet. | N | 0.514412071 | None | None | N |
| K/P | 0.9934 | likely_pathogenic | 0.9951 | pathogenic | -0.029 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| K/Q | 0.2504 | likely_benign | 0.2792 | benign | -0.935 | Destabilizing | 0.999 | D | 0.669 | prob.neutral | N | 0.426509059 | None | None | N |
| K/R | 0.1086 | likely_benign | 0.1109 | benign | -0.863 | Destabilizing | 0.997 | D | 0.663 | prob.neutral | N | 0.472883232 | None | None | N |
| K/S | 0.7815 | likely_pathogenic | 0.8284 | pathogenic | -1.543 | Destabilizing | 0.998 | D | 0.689 | prob.delet. | None | None | None | None | N |
| K/T | 0.4244 | ambiguous | 0.4817 | ambiguous | -1.179 | Destabilizing | 0.999 | D | 0.763 | deleterious | N | 0.431872276 | None | None | N |
| K/V | 0.5115 | ambiguous | 0.5549 | ambiguous | -0.029 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| K/W | 0.8299 | likely_pathogenic | 0.8468 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| K/Y | 0.6485 | likely_pathogenic | 0.6877 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.892 | 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.