Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17849 | 53770;53771;53772 | chr2:178607057;178607056;178607055 | chr2:179471784;179471783;179471782 |
| N2AB | 16208 | 48847;48848;48849 | chr2:178607057;178607056;178607055 | chr2:179471784;179471783;179471782 |
| N2A | 15281 | 46066;46067;46068 | chr2:178607057;178607056;178607055 | chr2:179471784;179471783;179471782 |
| N2B | 8784 | 26575;26576;26577 | chr2:178607057;178607056;178607055 | chr2:179471784;179471783;179471782 |
| Novex-1 | 8909 | 26950;26951;26952 | chr2:178607057;178607056;178607055 | chr2:179471784;179471783;179471782 |
| Novex-2 | 8976 | 27151;27152;27153 | chr2:178607057;178607056;178607055 | chr2:179471784;179471783;179471782 |
| 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/A | None | None | 0.543 | N | 0.4 | 0.185 | 0.312001716656 | gnomAD-4.0.0 | 1.59586E-06 | None | None | None | None | N | None | 5.69217E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.987 | N | 0.581 | 0.224 | 0.342400092842 | gnomAD-4.0.0 | 6.8514E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0009E-07 | 0 | 0 |
| V/L | rs746831431  |
-0.694 | 0.973 | N | 0.596 | 0.202 | None | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/L | rs746831431 |
-0.694 | 0.973 | N | 0.596 | 0.202 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs746831431 |
-0.694 | 0.973 | N | 0.596 | 0.202 | None | gnomAD-4.0.0 | 4.84011E-05 | None | None | None | None | N | None | 1.33765E-05 | 0 | None | 0 | 0 | None | 0 | 1.64853E-04 | 6.44645E-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 | 0.1905 | likely_benign | 0.1967 | benign | -1.449 | Destabilizing | 0.543 | D | 0.4 | neutral | N | 0.4800537 | None | None | N |
| V/C | 0.7359 | likely_pathogenic | 0.785 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| V/D | 0.7783 | likely_pathogenic | 0.8153 | pathogenic | -1.488 | Destabilizing | 0.999 | D | 0.803 | deleterious | N | 0.470844898 | None | None | N |
| V/E | 0.5076 | ambiguous | 0.5635 | ambiguous | -1.439 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/F | 0.4538 | ambiguous | 0.4811 | ambiguous | -0.939 | Destabilizing | 0.999 | D | 0.779 | deleterious | N | 0.470337919 | None | None | N |
| V/G | 0.4411 | ambiguous | 0.4764 | ambiguous | -1.806 | Destabilizing | 0.997 | D | 0.731 | prob.delet. | N | 0.518014655 | None | None | N |
| V/H | 0.8056 | likely_pathogenic | 0.8461 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/I | 0.1097 | likely_benign | 0.1187 | benign | -0.547 | Destabilizing | 0.987 | D | 0.581 | neutral | N | 0.5071443 | None | None | N |
| V/K | 0.4786 | ambiguous | 0.5579 | ambiguous | -1.414 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| V/L | 0.3855 | ambiguous | 0.4482 | ambiguous | -0.547 | Destabilizing | 0.973 | D | 0.596 | neutral | N | 0.456888838 | None | None | N |
| V/M | 0.2361 | likely_benign | 0.2678 | benign | -0.473 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| V/N | 0.6178 | likely_pathogenic | 0.6565 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/P | 0.9643 | likely_pathogenic | 0.9724 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| V/Q | 0.4319 | ambiguous | 0.4951 | ambiguous | -1.389 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| V/R | 0.433 | ambiguous | 0.5102 | ambiguous | -0.954 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| V/S | 0.3443 | ambiguous | 0.367 | ambiguous | -1.795 | Destabilizing | 0.995 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/T | 0.1663 | likely_benign | 0.1879 | benign | -1.636 | Destabilizing | 0.992 | D | 0.645 | neutral | None | None | None | None | N |
| V/W | 0.961 | likely_pathogenic | 0.9677 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Y | 0.8265 | likely_pathogenic | 0.8629 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.787 | 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.