Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3138 | 9637;9638;9639 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
| N2AB | 3138 | 9637;9638;9639 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
| N2A | 3138 | 9637;9638;9639 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
| N2B | 3092 | 9499;9500;9501 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
| Novex-1 | 3092 | 9499;9500;9501 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
| Novex-2 | 3092 | 9499;9500;9501 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
| Novex-3 | 3138 | 9637;9638;9639 | chr2:178767818;178767817;178767816 | chr2:179632545;179632544;179632543 |
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/S | rs781368593  |
-1.578 | 1.0 | N | 0.555 | 0.317 | 0.197625483188 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| A/S | rs781368593 |
-1.578 | 1.0 | N | 0.555 | 0.317 | 0.197625483188 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs781368593 |
-1.578 | 1.0 | N | 0.555 | 0.317 | 0.197625483188 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 0 | 0 |
| A/T | None | None | 1.0 | N | 0.689 | 0.316 | 0.216624796971 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-06 | 0 | 0 |
| A/V | rs755278092 |
0.152 | 1.0 | N | 0.586 | 0.313 | 0.377274123778 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 1.63239E-04 |
| A/V | rs755278092 |
0.152 | 1.0 | N | 0.586 | 0.313 | 0.377274123778 | gnomAD-4.0.0 | 4.7716E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29812E-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 | 0.9524 | likely_pathogenic | 0.9583 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| A/D | 0.9928 | likely_pathogenic | 0.993 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/E | 0.9926 | likely_pathogenic | 0.9941 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.567850325 | None | None | N |
| A/F | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/G | 0.2337 | likely_benign | 0.2181 | benign | -1.236 | Destabilizing | 1.0 | D | 0.555 | neutral | N | 0.418227726 | None | None | N |
| A/H | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/I | 0.9959 | likely_pathogenic | 0.9975 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/K | 0.9974 | likely_pathogenic | 0.9979 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/L | 0.9832 | likely_pathogenic | 0.9856 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/M | 0.9879 | likely_pathogenic | 0.9911 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/N | 0.9911 | likely_pathogenic | 0.9927 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/P | 0.9977 | likely_pathogenic | 0.9968 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.535144563 | None | None | N |
| A/Q | 0.9878 | likely_pathogenic | 0.99 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/R | 0.9896 | likely_pathogenic | 0.9906 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/S | 0.3404 | ambiguous | 0.3707 | ambiguous | -1.489 | Destabilizing | 1.0 | D | 0.555 | neutral | N | 0.467622365 | None | None | N |
| A/T | 0.8423 | likely_pathogenic | 0.8948 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.472637874 | None | None | N |
| A/V | 0.9618 | likely_pathogenic | 0.9748 | pathogenic | -0.015 | Destabilizing | 1.0 | D | 0.586 | neutral | N | 0.4413025 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.829 | 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.