Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8943 | 27052;27053;27054 | chr2:178713307;178713306;178713305 | chr2:179578034;179578033;179578032 |
| N2AB | 8626 | 26101;26102;26103 | chr2:178713307;178713306;178713305 | chr2:179578034;179578033;179578032 |
| N2A | 7699 | 23320;23321;23322 | chr2:178713307;178713306;178713305 | chr2:179578034;179578033;179578032 |
| 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 | rs948198555  |
-0.29 | 0.175 | N | 0.66 | 0.257 | 0.67065575343 | gnomAD-2.1.1 | 4.64E-06 | None | None | None | None | N | None | 0 | 3.29E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs948198555 |
-0.29 | 0.175 | N | 0.66 | 0.257 | 0.67065575343 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56938E-04 |
| V/D | rs948198555 |
-0.29 | 0.175 | N | 0.66 | 0.257 | 0.67065575343 | gnomAD-4.0.0 | 6.56678E-06 | None | None | None | None | N | None | 0 | 3.58346E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 8.6881E-05 |
| V/I | rs529187709 |
-0.292 | 0.001 | N | 0.277 | 0.091 | 0.251639045875 | gnomAD-2.1.1 | 1.17134E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.52799E-04 | None | 0 | 2.15E-05 | 0 |
| V/I | rs529187709 |
-0.292 | 0.001 | N | 0.277 | 0.091 | 0.251639045875 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.24121E-03 | 0 |
| V/I | rs529187709 |
-0.292 | 0.001 | N | 0.277 | 0.091 | 0.251639045875 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| V/I | rs529187709 |
-0.292 | 0.001 | N | 0.277 | 0.091 | 0.251639045875 | gnomAD-4.0.0 | 6.71699E-05 | None | None | None | None | N | None | 1.33772E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.54047E-05 | 9.40979E-04 | 8.09245E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1082 | likely_benign | 0.1273 | benign | -1.435 | Destabilizing | None | N | 0.141 | neutral | N | 0.402819493 | None | None | N |
| V/C | 0.6705 | likely_pathogenic | 0.7197 | pathogenic | -1.192 | Destabilizing | 0.859 | D | 0.667 | neutral | None | None | None | None | N |
| V/D | 0.6527 | likely_pathogenic | 0.7283 | pathogenic | -0.857 | Destabilizing | 0.175 | N | 0.66 | neutral | N | 0.51184912 | None | None | N |
| V/E | 0.5593 | ambiguous | 0.6426 | pathogenic | -0.858 | Destabilizing | 0.22 | N | 0.561 | neutral | None | None | None | None | N |
| V/F | 0.2001 | likely_benign | 0.2403 | benign | -1.166 | Destabilizing | 0.427 | N | 0.711 | prob.delet. | N | 0.461775863 | None | None | N |
| V/G | 0.3091 | likely_benign | 0.3293 | benign | -1.75 | Destabilizing | None | N | 0.414 | neutral | N | 0.484844095 | None | None | N |
| V/H | 0.7355 | likely_pathogenic | 0.8027 | pathogenic | -1.225 | Destabilizing | 0.859 | D | 0.704 | prob.neutral | None | None | None | None | N |
| V/I | 0.0704 | likely_benign | 0.0764 | benign | -0.674 | Destabilizing | 0.001 | N | 0.277 | neutral | N | 0.451344159 | None | None | N |
| V/K | 0.6283 | likely_pathogenic | 0.705 | pathogenic | -1.088 | Destabilizing | 0.055 | N | 0.537 | neutral | None | None | None | None | N |
| V/L | 0.171 | likely_benign | 0.2113 | benign | -0.674 | Destabilizing | 0.007 | N | 0.427 | neutral | N | 0.489553043 | None | None | N |
| V/M | 0.1306 | likely_benign | 0.1505 | benign | -0.604 | Destabilizing | 0.497 | N | 0.626 | neutral | None | None | None | None | N |
| V/N | 0.4723 | ambiguous | 0.5664 | pathogenic | -0.907 | Destabilizing | 0.22 | N | 0.668 | neutral | None | None | None | None | N |
| V/P | 0.8387 | likely_pathogenic | 0.8939 | pathogenic | -0.892 | Destabilizing | 0.364 | N | 0.68 | prob.neutral | None | None | None | None | N |
| V/Q | 0.5681 | likely_pathogenic | 0.6343 | pathogenic | -1.058 | Destabilizing | 0.497 | N | 0.718 | prob.delet. | None | None | None | None | N |
| V/R | 0.5394 | ambiguous | 0.6088 | pathogenic | -0.622 | Destabilizing | 0.001 | N | 0.463 | neutral | None | None | None | None | N |
| V/S | 0.2448 | likely_benign | 0.2954 | benign | -1.526 | Destabilizing | 0.055 | N | 0.463 | neutral | None | None | None | None | N |
| V/T | 0.1374 | likely_benign | 0.1667 | benign | -1.402 | Destabilizing | 0.002 | N | 0.27 | neutral | None | None | None | None | N |
| V/W | 0.8553 | likely_pathogenic | 0.8914 | pathogenic | -1.29 | Destabilizing | 0.958 | D | 0.687 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6348 | likely_pathogenic | 0.7059 | pathogenic | -0.992 | Destabilizing | 0.667 | D | 0.701 | prob.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.