Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22028 | 66307;66308;66309 | chr2:178582374;178582373;178582372 | chr2:179447101;179447100;179447099 |
| N2AB | 20387 | 61384;61385;61386 | chr2:178582374;178582373;178582372 | chr2:179447101;179447100;179447099 |
| N2A | 19460 | 58603;58604;58605 | chr2:178582374;178582373;178582372 | chr2:179447101;179447100;179447099 |
| N2B | 12963 | 39112;39113;39114 | chr2:178582374;178582373;178582372 | chr2:179447101;179447100;179447099 |
| Novex-1 | 13088 | 39487;39488;39489 | chr2:178582374;178582373;178582372 | chr2:179447101;179447100;179447099 |
| Novex-2 | 13155 | 39688;39689;39690 | chr2:178582374;178582373;178582372 | chr2:179447101;179447100;179447099 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1448745860  |
None | 0.999 | N | 0.685 | 0.587 | 0.674832526739 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs1448745860 |
None | 0.999 | N | 0.685 | 0.587 | 0.674832526739 | gnomAD-4.0.0 | 1.24035E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/C | 0.994 | likely_pathogenic | 0.9893 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.558494061 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.73 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.49 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| F/G | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.217 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/H | 0.9989 | likely_pathogenic | 0.9978 | pathogenic | -2.163 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.9535 | likely_pathogenic | 0.9513 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.500579537 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.375 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/L | 0.9968 | likely_pathogenic | 0.9961 | pathogenic | -1.233 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.505632419 | None | None | N |
| F/M | 0.9841 | likely_pathogenic | 0.9772 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/N | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -3.086 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.907 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/R | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.143 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/S | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.537 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.558494061 | None | None | N |
| F/T | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.172 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/V | 0.9693 | likely_pathogenic | 0.967 | pathogenic | -1.758 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.486737561 | None | None | N |
| F/W | 0.9559 | likely_pathogenic | 0.9385 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/Y | 0.8118 | likely_pathogenic | 0.7769 | pathogenic | -0.975 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.519207678 | 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.