Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24251 | 72976;72977;72978 | chr2:178573381;178573380;178573379 | chr2:179438108;179438107;179438106 |
| N2AB | 22610 | 68053;68054;68055 | chr2:178573381;178573380;178573379 | chr2:179438108;179438107;179438106 |
| N2A | 21683 | 65272;65273;65274 | chr2:178573381;178573380;178573379 | chr2:179438108;179438107;179438106 |
| N2B | 15186 | 45781;45782;45783 | chr2:178573381;178573380;178573379 | chr2:179438108;179438107;179438106 |
| Novex-1 | 15311 | 46156;46157;46158 | chr2:178573381;178573380;178573379 | chr2:179438108;179438107;179438106 |
| Novex-2 | 15378 | 46357;46358;46359 | chr2:178573381;178573380;178573379 | chr2:179438108;179438107;179438106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | D | 0.805 | 0.513 | 0.71434699764 | gnomAD-4.0.0 | 7.28717E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.42462E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7069 | likely_pathogenic | 0.6787 | pathogenic | -0.162 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.520251771 | None | None | I |
| G/C | 0.7263 | likely_pathogenic | 0.7284 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/D | 0.7496 | likely_pathogenic | 0.7583 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/E | 0.8258 | likely_pathogenic | 0.8239 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.5369769 | None | None | I |
| G/F | 0.9461 | likely_pathogenic | 0.9466 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/H | 0.8495 | likely_pathogenic | 0.8496 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/I | 0.9405 | likely_pathogenic | 0.9368 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.8473 | likely_pathogenic | 0.8426 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/L | 0.9285 | likely_pathogenic | 0.9254 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9402 | likely_pathogenic | 0.9363 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.7354 | likely_pathogenic | 0.726 | pathogenic | -0.184 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/P | 0.9932 | likely_pathogenic | 0.992 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/Q | 0.7927 | likely_pathogenic | 0.7836 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/R | 0.7698 | likely_pathogenic | 0.7592 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.539369984 | None | None | I |
| G/S | 0.4654 | ambiguous | 0.4337 | ambiguous | -0.332 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/T | 0.8436 | likely_pathogenic | 0.8369 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.9115 | likely_pathogenic | 0.904 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.56044998 | None | None | I |
| G/W | 0.9264 | likely_pathogenic | 0.9335 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9011 | likely_pathogenic | 0.9042 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.778 | 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.