Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9450 | 28573;28574;28575 | chr2:178710749;178710748;178710747 | chr2:179575476;179575475;179575474 |
| N2AB | 9133 | 27622;27623;27624 | chr2:178710749;178710748;178710747 | chr2:179575476;179575475;179575474 |
| N2A | 8206 | 24841;24842;24843 | chr2:178710749;178710748;178710747 | chr2:179575476;179575475;179575474 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | None | None | 0.896 | None | 0.592 | 0.332 | 0.28297238246 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/S | None | None | 0.811 | None | 0.535 | 0.24 | 0.276065633971 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 0 | 0 | 0 |
| N/T | rs2076533329  |
None | 0.103 | None | 0.289 | 0.205 | 0.275641507738 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/T | rs2076533329 |
None | 0.103 | None | 0.289 | 0.205 | 0.275641507738 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | None | N | None | 0 | 6.54622E-05 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6084 | likely_pathogenic | 0.7432 | pathogenic | -0.865 | Destabilizing | 0.851 | D | 0.657 | neutral | None | None | None | None | N |
| N/C | 0.7807 | likely_pathogenic | 0.8832 | pathogenic | 0.084 | Stabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| N/D | 0.2121 | likely_benign | 0.2521 | benign | -0.708 | Destabilizing | 0.896 | D | 0.595 | neutral | None | None | None | None | N |
| N/E | 0.6405 | likely_pathogenic | 0.7517 | pathogenic | -0.586 | Destabilizing | 0.919 | D | 0.585 | neutral | None | None | None | None | N |
| N/F | 0.8469 | likely_pathogenic | 0.9183 | pathogenic | -0.542 | Destabilizing | 0.976 | D | 0.752 | deleterious | None | None | None | None | N |
| N/G | 0.509 | ambiguous | 0.5873 | pathogenic | -1.235 | Destabilizing | 0.919 | D | 0.559 | neutral | None | None | None | None | N |
| N/H | 0.2436 | likely_benign | 0.3336 | benign | -1.02 | Destabilizing | 0.995 | D | 0.64 | neutral | None | None | None | None | N |
| N/I | 0.6459 | likely_pathogenic | 0.8093 | pathogenic | 0.09 | Stabilizing | 0.938 | D | 0.71 | prob.delet. | None | None | None | None | N |
| N/K | 0.4782 | ambiguous | 0.6361 | pathogenic | -0.324 | Destabilizing | 0.896 | D | 0.592 | neutral | None | None | None | None | N |
| N/L | 0.6732 | likely_pathogenic | 0.807 | pathogenic | 0.09 | Stabilizing | 0.851 | D | 0.672 | neutral | None | None | None | None | N |
| N/M | 0.6649 | likely_pathogenic | 0.8068 | pathogenic | 0.566 | Stabilizing | 0.702 | D | 0.529 | neutral | None | None | None | None | N |
| N/P | 0.9106 | likely_pathogenic | 0.9547 | pathogenic | -0.198 | Destabilizing | 0.988 | D | 0.751 | deleterious | None | None | None | None | N |
| N/Q | 0.5773 | likely_pathogenic | 0.7149 | pathogenic | -0.842 | Destabilizing | 0.988 | D | 0.643 | neutral | None | None | None | None | N |
| N/R | 0.5908 | likely_pathogenic | 0.7386 | pathogenic | -0.448 | Destabilizing | 0.988 | D | 0.599 | neutral | None | None | None | None | N |
| N/S | 0.2477 | likely_benign | 0.2878 | benign | -0.95 | Destabilizing | 0.811 | D | 0.535 | neutral | None | None | None | None | N |
| N/T | 0.3806 | ambiguous | 0.5035 | ambiguous | -0.633 | Destabilizing | 0.103 | N | 0.289 | neutral | None | None | None | None | N |
| N/V | 0.6886 | likely_pathogenic | 0.8294 | pathogenic | -0.198 | Destabilizing | 0.851 | D | 0.687 | prob.neutral | None | None | None | None | N |
| N/W | 0.9284 | likely_pathogenic | 0.968 | pathogenic | -0.349 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| N/Y | 0.3006 | likely_benign | 0.4341 | ambiguous | -0.13 | Destabilizing | 0.995 | D | 0.747 | 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.