Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3172 | 9739;9740;9741 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
| N2AB | 3172 | 9739;9740;9741 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
| N2A | 3172 | 9739;9740;9741 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
| N2B | 3126 | 9601;9602;9603 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
| Novex-1 | 3126 | 9601;9602;9603 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
| Novex-2 | 3126 | 9601;9602;9603 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
| Novex-3 | 3172 | 9739;9740;9741 | chr2:178766570;178766569;178766568 | chr2:179631297;179631296;179631295 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs754529831  |
0.395 | 0.999 | D | 0.679 | 0.529 | 0.632750256606 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| E/K | rs754529831 |
0.395 | 0.999 | D | 0.679 | 0.529 | 0.632750256606 | gnomAD-4.0.0 | 4.78877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29518E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8651 | likely_pathogenic | 0.7626 | pathogenic | -0.473 | Destabilizing | 0.999 | D | 0.626 | neutral | D | 0.531163076 | None | None | N |
| E/C | 0.9958 | likely_pathogenic | 0.9933 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| E/D | 0.8361 | likely_pathogenic | 0.7575 | pathogenic | -0.557 | Destabilizing | 0.999 | D | 0.586 | neutral | N | 0.516925368 | None | None | N |
| E/F | 0.9966 | likely_pathogenic | 0.9927 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| E/G | 0.9109 | likely_pathogenic | 0.8574 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.577 | neutral | N | 0.493304582 | None | None | N |
| E/H | 0.987 | likely_pathogenic | 0.9726 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| E/I | 0.9761 | likely_pathogenic | 0.9479 | pathogenic | 0.187 | Stabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| E/K | 0.8916 | likely_pathogenic | 0.8142 | pathogenic | -0.02 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.577582277 | None | None | N |
| E/L | 0.9821 | likely_pathogenic | 0.9615 | pathogenic | 0.187 | Stabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| E/M | 0.976 | likely_pathogenic | 0.9555 | pathogenic | 0.301 | Stabilizing | 1.0 | D | 0.582 | neutral | None | None | None | None | N |
| E/N | 0.9764 | likely_pathogenic | 0.9528 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| E/P | 0.9989 | likely_pathogenic | 0.9973 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| E/Q | 0.7968 | likely_pathogenic | 0.679 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.51288252 | None | None | N |
| E/R | 0.9346 | likely_pathogenic | 0.8683 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| E/S | 0.9359 | likely_pathogenic | 0.8822 | pathogenic | -0.572 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/T | 0.9387 | likely_pathogenic | 0.88 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| E/V | 0.9122 | likely_pathogenic | 0.8375 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.583 | neutral | D | 0.551989935 | None | None | N |
| E/W | 0.9989 | likely_pathogenic | 0.9976 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| E/Y | 0.9946 | likely_pathogenic | 0.9883 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.584 | neutral | 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.