Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26847 | 80764;80765;80766 | chr2:178565593;178565592;178565591 | chr2:179430320;179430319;179430318 |
| N2AB | 25206 | 75841;75842;75843 | chr2:178565593;178565592;178565591 | chr2:179430320;179430319;179430318 |
| N2A | 24279 | 73060;73061;73062 | chr2:178565593;178565592;178565591 | chr2:179430320;179430319;179430318 |
| N2B | 17782 | 53569;53570;53571 | chr2:178565593;178565592;178565591 | chr2:179430320;179430319;179430318 |
| Novex-1 | 17907 | 53944;53945;53946 | chr2:178565593;178565592;178565591 | chr2:179430320;179430319;179430318 |
| Novex-2 | 17974 | 54145;54146;54147 | chr2:178565593;178565592;178565591 | chr2:179430320;179430319;179430318 |
| 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 | rs561152891  |
-0.361 | 0.003 | N | 0.075 | 0.092 | 0.207176502487 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/E | rs561152891 |
-0.361 | 0.003 | N | 0.075 | 0.092 | 0.207176502487 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/E | rs561152891 |
-0.361 | 0.003 | N | 0.075 | 0.092 | 0.207176502487 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| Q/E | rs561152891 |
-0.361 | 0.003 | N | 0.075 | 0.092 | 0.207176502487 | gnomAD-4.0.0 | 6.57497E-06 | None | None | None | None | N | None | 0 | 6.55394E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | 0.002 | N | 0.099 | 0.156 | 0.181679512989 | gnomAD-4.0.0 | 2.05281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79911E-06 | 0 | 1.65711E-05 |
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 | 0.229 | likely_benign | 0.2435 | benign | -0.814 | Destabilizing | 0.129 | N | 0.319 | neutral | None | None | None | None | N |
| Q/C | 0.5758 | likely_pathogenic | 0.5628 | ambiguous | -0.097 | Destabilizing | 0.983 | D | 0.437 | neutral | None | None | None | None | N |
| Q/D | 0.3992 | ambiguous | 0.4086 | ambiguous | -0.113 | Destabilizing | 0.129 | N | 0.267 | neutral | None | None | None | None | N |
| Q/E | 0.0873 | likely_benign | 0.0857 | benign | None | Stabilizing | 0.003 | N | 0.075 | neutral | N | 0.444655834 | None | None | N |
| Q/F | 0.6467 | likely_pathogenic | 0.6428 | pathogenic | -0.544 | Destabilizing | 0.716 | D | 0.462 | neutral | None | None | None | None | N |
| Q/G | 0.2851 | likely_benign | 0.2843 | benign | -1.164 | Destabilizing | 0.228 | N | 0.333 | neutral | None | None | None | None | N |
| Q/H | 0.2039 | likely_benign | 0.2058 | benign | -0.785 | Destabilizing | 0.001 | N | 0.086 | neutral | N | 0.486638529 | None | None | N |
| Q/I | 0.384 | ambiguous | 0.3971 | ambiguous | 0.081 | Stabilizing | 0.836 | D | 0.497 | neutral | None | None | None | None | N |
| Q/K | 0.0987 | likely_benign | 0.0993 | benign | -0.15 | Destabilizing | 0.001 | N | 0.072 | neutral | N | 0.43882594 | None | None | N |
| Q/L | 0.1416 | likely_benign | 0.1455 | benign | 0.081 | Stabilizing | 0.351 | N | 0.33 | neutral | N | 0.510707467 | None | None | N |
| Q/M | 0.302 | likely_benign | 0.3279 | benign | 0.446 | Stabilizing | 0.94 | D | 0.361 | neutral | None | None | None | None | N |
| Q/N | 0.2778 | likely_benign | 0.2842 | benign | -0.793 | Destabilizing | 0.264 | N | 0.247 | neutral | None | None | None | None | N |
| Q/P | 0.6841 | likely_pathogenic | 0.7012 | pathogenic | -0.187 | Destabilizing | 0.523 | D | 0.455 | neutral | N | 0.500019651 | None | None | N |
| Q/R | 0.1188 | likely_benign | 0.1134 | benign | -0.09 | Destabilizing | 0.002 | N | 0.099 | neutral | N | 0.455467473 | None | None | N |
| Q/S | 0.2564 | likely_benign | 0.2779 | benign | -0.967 | Destabilizing | 0.228 | N | 0.276 | neutral | None | None | None | None | N |
| Q/T | 0.2111 | likely_benign | 0.2349 | benign | -0.64 | Destabilizing | 0.418 | N | 0.323 | neutral | None | None | None | None | N |
| Q/V | 0.2343 | likely_benign | 0.2569 | benign | -0.187 | Destabilizing | 0.418 | N | 0.411 | neutral | None | None | None | None | N |
| Q/W | 0.5745 | likely_pathogenic | 0.5309 | ambiguous | -0.356 | Destabilizing | 0.983 | D | 0.421 | neutral | None | None | None | None | N |
| Q/Y | 0.4362 | ambiguous | 0.4147 | ambiguous | -0.143 | Destabilizing | 0.264 | N | 0.453 | 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.