Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17500 | 52723;52724;52725 | chr2:178608385;178608384;178608383 | chr2:179473112;179473111;179473110 |
| N2AB | 15859 | 47800;47801;47802 | chr2:178608385;178608384;178608383 | chr2:179473112;179473111;179473110 |
| N2A | 14932 | 45019;45020;45021 | chr2:178608385;178608384;178608383 | chr2:179473112;179473111;179473110 |
| N2B | 8435 | 25528;25529;25530 | chr2:178608385;178608384;178608383 | chr2:179473112;179473111;179473110 |
| Novex-1 | 8560 | 25903;25904;25905 | chr2:178608385;178608384;178608383 | chr2:179473112;179473111;179473110 |
| Novex-2 | 8627 | 26104;26105;26106 | chr2:178608385;178608384;178608383 | chr2:179473112;179473111;179473110 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs1384771900  |
-0.3 | 1.0 | N | 0.624 | 0.498 | 0.59498951386 | gnomAD-2.1.1 | 8.19E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.73E-05 | None | 0 | None | 0 | 9.07E-06 | 0 |
| P/S | None | None | 0.995 | N | 0.628 | 0.391 | 0.311079019809 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0877 | likely_benign | 0.0952 | benign | -0.571 | Destabilizing | 0.619 | D | 0.433 | neutral | N | 0.508747385 | None | None | I |
| P/C | 0.5142 | ambiguous | 0.5976 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | I |
| P/D | 0.3748 | ambiguous | 0.5002 | ambiguous | -0.253 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | I |
| P/E | 0.225 | likely_benign | 0.2955 | benign | -0.365 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | I |
| P/F | 0.5742 | likely_pathogenic | 0.6703 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | I |
| P/G | 0.3635 | ambiguous | 0.4087 | ambiguous | -0.715 | Destabilizing | 0.988 | D | 0.61 | neutral | None | None | None | None | I |
| P/H | 0.2056 | likely_benign | 0.2609 | benign | -0.256 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.489249684 | None | None | I |
| P/I | 0.3174 | likely_benign | 0.398 | ambiguous | -0.341 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | I |
| P/K | 0.2193 | likely_benign | 0.2908 | benign | -0.444 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | I |
| P/L | 0.1506 | likely_benign | 0.1768 | benign | -0.341 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | D | 0.523256148 | None | None | I |
| P/M | 0.3296 | likely_benign | 0.3833 | ambiguous | -0.312 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | I |
| P/N | 0.305 | likely_benign | 0.3783 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| P/Q | 0.1466 | likely_benign | 0.1761 | benign | -0.443 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| P/R | 0.1732 | likely_benign | 0.2227 | benign | 0.092 | Stabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.479045468 | None | None | I |
| P/S | 0.1372 | likely_benign | 0.1632 | benign | -0.59 | Destabilizing | 0.995 | D | 0.628 | neutral | N | 0.490450999 | None | None | I |
| P/T | 0.1176 | likely_benign | 0.143 | benign | -0.598 | Destabilizing | 0.998 | D | 0.634 | neutral | N | 0.473916906 | None | None | I |
| P/V | 0.2133 | likely_benign | 0.249 | benign | -0.382 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | I |
| P/W | 0.7395 | likely_pathogenic | 0.8094 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| P/Y | 0.5133 | ambiguous | 0.6057 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.637 | neutral | 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.