Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33741 | 101446;101447;101448 | chr2:178535394;178535393;178535392 | chr2:179400121;179400120;179400119 |
| N2AB | 32100 | 96523;96524;96525 | chr2:178535394;178535393;178535392 | chr2:179400121;179400120;179400119 |
| N2A | 31173 | 93742;93743;93744 | chr2:178535394;178535393;178535392 | chr2:179400121;179400120;179400119 |
| N2B | 24676 | 74251;74252;74253 | chr2:178535394;178535393;178535392 | chr2:179400121;179400120;179400119 |
| Novex-1 | 24801 | 74626;74627;74628 | chr2:178535394;178535393;178535392 | chr2:179400121;179400120;179400119 |
| Novex-2 | 24868 | 74827;74828;74829 | chr2:178535394;178535393;178535392 | chr2:179400121;179400120;179400119 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.979 | N | 0.477 | 0.235 | 0.152612264143 | gnomAD-4.0.0 | 6.84185E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99429E-07 | 0 | 0 |
| Q/H | rs754625556  |
-0.528 | 0.999 | N | 0.611 | 0.237 | 0.144782658237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/H | rs754625556 |
-0.528 | 0.999 | N | 0.611 | 0.237 | 0.144782658237 | gnomAD-4.0.0 | 1.5911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3575 | ambiguous | 0.4192 | ambiguous | -0.562 | Destabilizing | 0.704 | D | 0.313 | neutral | None | None | None | None | N |
| Q/C | 0.8653 | likely_pathogenic | 0.8982 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| Q/D | 0.8233 | likely_pathogenic | 0.884 | pathogenic | -0.146 | Destabilizing | 0.991 | D | 0.558 | neutral | None | None | None | None | N |
| Q/E | 0.2039 | likely_benign | 0.2184 | benign | -0.103 | Destabilizing | 0.979 | D | 0.477 | neutral | N | 0.412351414 | None | None | N |
| Q/F | 0.8206 | likely_pathogenic | 0.873 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| Q/G | 0.6106 | likely_pathogenic | 0.7075 | pathogenic | -0.86 | Destabilizing | 0.994 | D | 0.643 | neutral | None | None | None | None | N |
| Q/H | 0.4621 | ambiguous | 0.5568 | ambiguous | -0.622 | Destabilizing | 0.999 | D | 0.611 | neutral | N | 0.43753786 | None | None | N |
| Q/I | 0.5389 | ambiguous | 0.5904 | pathogenic | 0.169 | Stabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| Q/K | 0.3013 | likely_benign | 0.3633 | ambiguous | -0.21 | Destabilizing | 0.991 | D | 0.534 | neutral | N | 0.408292389 | None | None | N |
| Q/L | 0.3123 | likely_benign | 0.3676 | ambiguous | 0.169 | Stabilizing | 0.982 | D | 0.646 | neutral | N | 0.488115822 | None | None | N |
| Q/M | 0.4683 | ambiguous | 0.5034 | ambiguous | 0.533 | Stabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| Q/N | 0.4785 | ambiguous | 0.5702 | pathogenic | -0.663 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| Q/P | 0.5828 | likely_pathogenic | 0.7593 | pathogenic | -0.044 | Destabilizing | 0.997 | D | 0.701 | prob.neutral | N | 0.458643851 | None | None | N |
| Q/R | 0.3432 | ambiguous | 0.4119 | ambiguous | -0.052 | Destabilizing | 0.986 | D | 0.581 | neutral | N | 0.431302534 | None | None | N |
| Q/S | 0.3605 | ambiguous | 0.4311 | ambiguous | -0.744 | Destabilizing | 0.989 | D | 0.535 | neutral | None | None | None | None | N |
| Q/T | 0.3043 | likely_benign | 0.344 | ambiguous | -0.515 | Destabilizing | 0.873 | D | 0.661 | neutral | None | None | None | None | N |
| Q/V | 0.3669 | ambiguous | 0.4086 | ambiguous | -0.044 | Destabilizing | 0.955 | D | 0.67 | neutral | None | None | None | None | N |
| Q/W | 0.8754 | likely_pathogenic | 0.9193 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| Q/Y | 0.7486 | likely_pathogenic | 0.8349 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | 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.