Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6951 | 21076;21077;21078 | chr2:178724524;178724523;178724522 | chr2:179589251;179589250;179589249 |
| N2AB | 6634 | 20125;20126;20127 | chr2:178724524;178724523;178724522 | chr2:179589251;179589250;179589249 |
| N2A | 5707 | 17344;17345;17346 | chr2:178724524;178724523;178724522 | chr2:179589251;179589250;179589249 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs1578062152  |
None | 0.484 | N | 0.42 | 0.219 | 0.710221506454 | gnomAD-4.0.0 | 2.07849E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72752E-06 | 0 | 0 |
| V/I | rs907454028 |
-0.014 | None | N | 0.119 | 0.074 | 0.300110245524 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 6.52E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs907454028 |
-0.014 | None | N | 0.119 | 0.074 | 0.300110245524 | 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 |
| V/I | rs907454028 |
-0.014 | None | N | 0.119 | 0.074 | 0.300110245524 | gnomAD-4.0.0 | 3.93788E-06 | None | None | None | None | N | None | 1.71004E-05 | 1.73925E-05 | None | 0 | 0 | None | 0 | 0 | 2.46488E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1568 | likely_benign | 0.1656 | benign | -0.972 | Destabilizing | 0.052 | N | 0.297 | neutral | N | 0.486512738 | None | None | N |
| V/C | 0.8244 | likely_pathogenic | 0.8322 | pathogenic | -0.769 | Destabilizing | 0.935 | D | 0.299 | neutral | None | None | None | None | N |
| V/D | 0.3541 | ambiguous | 0.4116 | ambiguous | -0.885 | Destabilizing | 0.484 | N | 0.42 | neutral | N | 0.468631809 | None | None | N |
| V/E | 0.2016 | likely_benign | 0.231 | benign | -0.943 | Destabilizing | 0.149 | N | 0.369 | neutral | None | None | None | None | N |
| V/F | 0.1979 | likely_benign | 0.2015 | benign | -0.838 | Destabilizing | 0.317 | N | 0.332 | neutral | N | 0.469645767 | None | None | N |
| V/G | 0.2652 | likely_benign | 0.2854 | benign | -1.192 | Destabilizing | 0.211 | N | 0.41 | neutral | N | 0.481509051 | None | None | N |
| V/H | 0.5887 | likely_pathogenic | 0.6105 | pathogenic | -0.623 | Destabilizing | 0.935 | D | 0.371 | neutral | None | None | None | None | N |
| V/I | 0.0725 | likely_benign | 0.0732 | benign | -0.505 | Destabilizing | None | N | 0.119 | neutral | N | 0.447799634 | None | None | N |
| V/K | 0.3264 | likely_benign | 0.3448 | ambiguous | -0.977 | Destabilizing | 0.081 | N | 0.395 | neutral | None | None | None | None | N |
| V/L | 0.1423 | likely_benign | 0.1328 | benign | -0.505 | Destabilizing | 0.009 | N | 0.268 | neutral | N | 0.414321779 | None | None | N |
| V/M | 0.1248 | likely_benign | 0.1151 | benign | -0.486 | Destabilizing | 0.38 | N | 0.312 | neutral | None | None | None | None | N |
| V/N | 0.326 | likely_benign | 0.361 | ambiguous | -0.764 | Destabilizing | 0.555 | D | 0.421 | neutral | None | None | None | None | N |
| V/P | 0.8106 | likely_pathogenic | 0.8143 | pathogenic | -0.625 | Destabilizing | 0.791 | D | 0.401 | neutral | None | None | None | None | N |
| V/Q | 0.2813 | likely_benign | 0.3016 | benign | -0.983 | Destabilizing | 0.38 | N | 0.383 | neutral | None | None | None | None | N |
| V/R | 0.278 | likely_benign | 0.2996 | benign | -0.361 | Destabilizing | 0.001 | N | 0.265 | neutral | None | None | None | None | N |
| V/S | 0.2184 | likely_benign | 0.2354 | benign | -1.154 | Destabilizing | 0.081 | N | 0.342 | neutral | None | None | None | None | N |
| V/T | 0.1171 | likely_benign | 0.1246 | benign | -1.114 | Destabilizing | 0.001 | N | 0.097 | neutral | None | None | None | None | N |
| V/W | 0.7897 | likely_pathogenic | 0.7749 | pathogenic | -0.961 | Destabilizing | 0.935 | D | 0.457 | neutral | None | None | None | None | N |
| V/Y | 0.6052 | likely_pathogenic | 0.6076 | pathogenic | -0.694 | Destabilizing | 0.555 | D | 0.324 | 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.