Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27399 | 82420;82421;82422 | chr2:178563937;178563936;178563935 | chr2:179428664;179428663;179428662 |
| N2AB | 25758 | 77497;77498;77499 | chr2:178563937;178563936;178563935 | chr2:179428664;179428663;179428662 |
| N2A | 24831 | 74716;74717;74718 | chr2:178563937;178563936;178563935 | chr2:179428664;179428663;179428662 |
| N2B | 18334 | 55225;55226;55227 | chr2:178563937;178563936;178563935 | chr2:179428664;179428663;179428662 |
| Novex-1 | 18459 | 55600;55601;55602 | chr2:178563937;178563936;178563935 | chr2:179428664;179428663;179428662 |
| Novex-2 | 18526 | 55801;55802;55803 | chr2:178563937;178563936;178563935 | chr2:179428664;179428663;179428662 |
| 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/D | None | None | 1.0 | N | 0.711 | 0.503 | 0.515938915144 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.707 | 0.454 | 0.435262743402 | gnomAD-4.0.0 | 3.18286E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77469E-05 | None | 0 | 2.41429E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6761 | likely_pathogenic | 0.6879 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.509553802 | None | None | I |
| G/C | 0.6884 | likely_pathogenic | 0.6788 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.52424147 | None | None | I |
| G/D | 0.9233 | likely_pathogenic | 0.933 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.521417086 | None | None | I |
| G/E | 0.933 | likely_pathogenic | 0.9411 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/F | 0.9524 | likely_pathogenic | 0.9622 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/H | 0.9429 | likely_pathogenic | 0.9567 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/I | 0.9435 | likely_pathogenic | 0.9559 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.961 | likely_pathogenic | 0.9692 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/L | 0.9419 | likely_pathogenic | 0.9503 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/M | 0.9461 | likely_pathogenic | 0.953 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.8639 | likely_pathogenic | 0.8897 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| G/P | 0.9954 | likely_pathogenic | 0.9973 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Q | 0.9223 | likely_pathogenic | 0.9322 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/R | 0.899 | likely_pathogenic | 0.9207 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.507934414 | None | None | I |
| G/S | 0.5017 | ambiguous | 0.5189 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.506262119 | None | None | I |
| G/T | 0.8596 | likely_pathogenic | 0.873 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/V | 0.9032 | likely_pathogenic | 0.9179 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.558639554 | None | None | I |
| G/W | 0.9381 | likely_pathogenic | 0.9579 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.932 | likely_pathogenic | 0.9471 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.78 | 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.