Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24237 | 72934;72935;72936 | chr2:178573423;178573422;178573421 | chr2:179438150;179438149;179438148 |
| N2AB | 22596 | 68011;68012;68013 | chr2:178573423;178573422;178573421 | chr2:179438150;179438149;179438148 |
| N2A | 21669 | 65230;65231;65232 | chr2:178573423;178573422;178573421 | chr2:179438150;179438149;179438148 |
| N2B | 15172 | 45739;45740;45741 | chr2:178573423;178573422;178573421 | chr2:179438150;179438149;179438148 |
| Novex-1 | 15297 | 46114;46115;46116 | chr2:178573423;178573422;178573421 | chr2:179438150;179438149;179438148 |
| Novex-2 | 15364 | 46315;46316;46317 | chr2:178573423;178573422;178573421 | chr2:179438150;179438149;179438148 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 0.698 | N | 0.449 | 0.42 | 0.312001716656 | gnomAD-4.0.0 | 1.87392E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.26213E-06 | 0 | 0 |
| D/N | None | None | 0.014 | N | 0.183 | 0.105 | 0.178374595973 | gnomAD-4.0.0 | 7.31326E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.35645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4035 | ambiguous | 0.3699 | ambiguous | -0.468 | Destabilizing | 0.698 | D | 0.543 | neutral | N | 0.501780851 | None | None | N |
| D/C | 0.7878 | likely_pathogenic | 0.7623 | pathogenic | 0.148 | Stabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/E | 0.1968 | likely_benign | 0.1656 | benign | -0.519 | Destabilizing | 0.014 | N | 0.238 | neutral | N | 0.490564269 | None | None | N |
| D/F | 0.7544 | likely_pathogenic | 0.7194 | pathogenic | -0.803 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/G | 0.3292 | likely_benign | 0.2865 | benign | -0.662 | Destabilizing | 0.698 | D | 0.449 | neutral | N | 0.48448629 | None | None | N |
| D/H | 0.5159 | ambiguous | 0.5099 | ambiguous | -1.031 | Destabilizing | 0.992 | D | 0.557 | neutral | N | 0.475776557 | None | None | N |
| D/I | 0.6893 | likely_pathogenic | 0.6434 | pathogenic | 0.002 | Stabilizing | 0.978 | D | 0.696 | prob.neutral | None | None | None | None | N |
| D/K | 0.7099 | likely_pathogenic | 0.6902 | pathogenic | 0.201 | Stabilizing | 0.754 | D | 0.523 | neutral | None | None | None | None | N |
| D/L | 0.6871 | likely_pathogenic | 0.6517 | pathogenic | 0.002 | Stabilizing | 0.956 | D | 0.694 | prob.neutral | None | None | None | None | N |
| D/M | 0.7812 | likely_pathogenic | 0.754 | pathogenic | 0.486 | Stabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/N | 0.1255 | likely_benign | 0.1313 | benign | -0.008 | Destabilizing | 0.014 | N | 0.183 | neutral | N | 0.489561404 | None | None | N |
| D/P | 0.9787 | likely_pathogenic | 0.9722 | pathogenic | -0.134 | Destabilizing | 0.978 | D | 0.566 | neutral | None | None | None | None | N |
| D/Q | 0.5734 | likely_pathogenic | 0.5463 | ambiguous | -0.015 | Destabilizing | 0.915 | D | 0.531 | neutral | None | None | None | None | N |
| D/R | 0.7707 | likely_pathogenic | 0.7456 | pathogenic | 0.07 | Stabilizing | 0.956 | D | 0.659 | neutral | None | None | None | None | N |
| D/S | 0.2276 | likely_benign | 0.2186 | benign | -0.14 | Destabilizing | 0.754 | D | 0.423 | neutral | None | None | None | None | N |
| D/T | 0.3451 | ambiguous | 0.323 | benign | 0.018 | Stabilizing | 0.956 | D | 0.505 | neutral | None | None | None | None | N |
| D/V | 0.5009 | ambiguous | 0.4546 | ambiguous | -0.134 | Destabilizing | 0.942 | D | 0.698 | prob.neutral | D | 0.53824285 | None | None | N |
| D/W | 0.9481 | likely_pathogenic | 0.9395 | pathogenic | -0.771 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/Y | 0.335 | likely_benign | 0.3229 | benign | -0.586 | Destabilizing | 0.997 | D | 0.682 | prob.neutral | D | 0.537989361 | 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.