Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20942 | 63049;63050;63051 | chr2:178588901;178588900;178588899 | chr2:179453628;179453627;179453626 |
| N2AB | 19301 | 58126;58127;58128 | chr2:178588901;178588900;178588899 | chr2:179453628;179453627;179453626 |
| N2A | 18374 | 55345;55346;55347 | chr2:178588901;178588900;178588899 | chr2:179453628;179453627;179453626 |
| N2B | 11877 | 35854;35855;35856 | chr2:178588901;178588900;178588899 | chr2:179453628;179453627;179453626 |
| Novex-1 | 12002 | 36229;36230;36231 | chr2:178588901;178588900;178588899 | chr2:179453628;179453627;179453626 |
| Novex-2 | 12069 | 36430;36431;36432 | chr2:178588901;178588900;178588899 | chr2:179453628;179453627;179453626 |
| 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/H | None | None | 1.0 | D | 0.787 | 0.6 | 0.524218619521 | gnomAD-4.0.0 | 1.36897E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79926E-06 | 0 | 0 |
| N/K | rs1197168679  |
-0.34 | 1.0 | D | 0.762 | 0.641 | 0.344017737713 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.32E-05 | 0 | 0 |
| N/K | rs1197168679 |
-0.34 | 1.0 | D | 0.762 | 0.641 | 0.344017737713 | gnomAD-4.0.0 | 1.59275E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8853E-05 | 0 | 0 | 0 | 0 |
| N/S | rs769163040 |
-0.967 | 0.999 | N | 0.595 | 0.521 | 0.357929162469 | gnomAD-2.1.1 | 4.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.26968E-04 | None | 0 | 0 | 0 |
| N/S | rs769163040 |
-0.967 | 0.999 | N | 0.595 | 0.521 | 0.357929162469 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| N/S | rs769163040 |
-0.967 | 0.999 | N | 0.595 | 0.521 | 0.357929162469 | gnomAD-4.0.0 | 1.7359E-05 | None | None | None | None | N | None | 1.33529E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.96469E-04 | 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 | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| N/C | 0.9815 | likely_pathogenic | 0.9829 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/D | 0.9945 | likely_pathogenic | 0.9943 | pathogenic | -2.308 | Highly Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.534540456 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.138 | Highly Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | N |
| N/F | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/G | 0.9944 | likely_pathogenic | 0.9959 | pathogenic | -0.706 | Destabilizing | 0.999 | D | 0.569 | neutral | None | None | None | None | N |
| N/H | 0.9952 | likely_pathogenic | 0.9944 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.547671188 | None | None | N |
| N/I | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.769 | deleterious | D | 0.547924678 | None | None | N |
| N/K | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.54665723 | None | None | N |
| N/L | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | 0.35 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/M | 0.9969 | likely_pathogenic | 0.9966 | pathogenic | 0.463 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| N/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| N/Q | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/R | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/S | 0.9539 | likely_pathogenic | 0.9577 | pathogenic | -0.924 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.502584681 | None | None | N |
| N/T | 0.9789 | likely_pathogenic | 0.9815 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.471247561 | None | None | N |
| N/V | 0.9974 | likely_pathogenic | 0.9976 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/Y | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.782 | deleterious | D | 0.547671188 | 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.