Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1148 | 3667;3668;3669 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
| N2AB | 1148 | 3667;3668;3669 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
| N2A | 1148 | 3667;3668;3669 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
| N2B | 1102 | 3529;3530;3531 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
| Novex-1 | 1102 | 3529;3530;3531 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
| Novex-2 | 1102 | 3529;3530;3531 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
| Novex-3 | 1148 | 3667;3668;3669 | chr2:178781202;178781201;178781200 | chr2:179645929;179645928;179645927 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs889422639  |
-0.141 | 0.992 | N | 0.528 | 0.292 | 0.221734844693 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | I | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.76E-06 | 0 |
| A/T | rs889422639 |
-0.141 | 0.992 | N | 0.528 | 0.292 | 0.221734844693 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs889422639 |
-0.141 | 0.992 | N | 0.528 | 0.292 | 0.221734844693 | gnomAD-4.0.0 | 3.84216E-06 | None | None | None | None | I | None | 3.38181E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39197E-06 | 0 | 0 |
| A/V | None | None | 0.998 | N | 0.573 | 0.394 | 0.348983352498 | gnomAD-4.0.0 | 1.59082E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8656 | likely_pathogenic | 0.8263 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| A/D | 0.7491 | likely_pathogenic | 0.6639 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.449017803 | None | None | I |
| A/E | 0.6106 | likely_pathogenic | 0.5316 | ambiguous | -0.751 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | I |
| A/F | 0.7371 | likely_pathogenic | 0.6831 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| A/G | 0.3269 | likely_benign | 0.2695 | benign | -0.445 | Destabilizing | 0.996 | D | 0.439 | neutral | N | 0.450956271 | None | None | I |
| A/H | 0.8014 | likely_pathogenic | 0.7425 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| A/I | 0.6678 | likely_pathogenic | 0.5518 | ambiguous | -0.286 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| A/K | 0.7729 | likely_pathogenic | 0.7108 | pathogenic | -0.777 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
| A/L | 0.4325 | ambiguous | 0.3631 | ambiguous | -0.286 | Destabilizing | 0.998 | D | 0.595 | neutral | None | None | None | None | I |
| A/M | 0.5925 | likely_pathogenic | 0.4927 | ambiguous | -0.289 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| A/N | 0.6735 | likely_pathogenic | 0.5791 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| A/P | 0.5307 | ambiguous | 0.4807 | ambiguous | -0.271 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | N | 0.382581408 | None | None | I |
| A/Q | 0.608 | likely_pathogenic | 0.5363 | ambiguous | -0.607 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| A/R | 0.6466 | likely_pathogenic | 0.5937 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| A/S | 0.1414 | likely_benign | 0.1213 | benign | -0.536 | Destabilizing | 0.957 | D | 0.327 | neutral | N | 0.419510467 | None | None | I |
| A/T | 0.2413 | likely_benign | 0.1743 | benign | -0.596 | Destabilizing | 0.992 | D | 0.528 | neutral | N | 0.440981648 | None | None | I |
| A/V | 0.3853 | ambiguous | 0.2938 | benign | -0.271 | Destabilizing | 0.998 | D | 0.573 | neutral | N | 0.433306783 | None | None | I |
| A/W | 0.9447 | likely_pathogenic | 0.9311 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| A/Y | 0.8566 | likely_pathogenic | 0.8105 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.751 | 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.