Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 6878 | 20857;20858;20859 | chr2:178725572;178725571;178725570 | chr2:179590299;179590298;179590297 |
N2AB | 6561 | 19906;19907;19908 | chr2:178725572;178725571;178725570 | chr2:179590299;179590298;179590297 |
N2A | 5634 | 17125;17126;17127 | chr2:178725572;178725571;178725570 | chr2:179590299;179590298;179590297 |
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 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | rs752107739 | -0.622 | 0.961 | D | 0.446 | 0.319 | 0.513901218509 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
E/A | rs752107739 | -0.622 | 0.961 | D | 0.446 | 0.319 | 0.513901218509 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
E/A | rs752107739 | -0.622 | 0.961 | D | 0.446 | 0.319 | 0.513901218509 | gnomAD-4.0.0 | 1.66744E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.11419E-05 | 0 | 0 |
E/Q | rs755499713 | -0.085 | 0.961 | N | 0.44 | 0.253 | 0.340273420219 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
E/Q | rs755499713 | -0.085 | 0.961 | N | 0.44 | 0.253 | 0.340273420219 | gnomAD-4.0.0 | 1.59421E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86261E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.1809 | likely_benign | 0.1524 | benign | -0.64 | Destabilizing | 0.961 | D | 0.446 | neutral | D | 0.533155545 | None | None | N |
E/C | 0.8844 | likely_pathogenic | 0.8611 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
E/D | 0.2417 | likely_benign | 0.2238 | benign | -0.572 | Destabilizing | 0.98 | D | 0.396 | neutral | N | 0.485936727 | None | None | N |
E/F | 0.7762 | likely_pathogenic | 0.754 | pathogenic | -0.355 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
E/G | 0.294 | likely_benign | 0.2564 | benign | -0.886 | Destabilizing | 0.98 | D | 0.511 | neutral | N | 0.491723625 | None | None | N |
E/H | 0.4747 | ambiguous | 0.4634 | ambiguous | -0.249 | Destabilizing | 0.999 | D | 0.502 | neutral | None | None | None | None | N |
E/I | 0.3939 | ambiguous | 0.3724 | ambiguous | -0.006 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
E/K | 0.1547 | likely_benign | 0.1517 | benign | 0.116 | Stabilizing | 0.122 | N | 0.146 | neutral | N | 0.471760369 | None | None | N |
E/L | 0.4687 | ambiguous | 0.4376 | ambiguous | -0.006 | Destabilizing | 0.996 | D | 0.565 | neutral | None | None | None | None | N |
E/M | 0.5154 | ambiguous | 0.4859 | ambiguous | 0.195 | Stabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
E/N | 0.4229 | ambiguous | 0.3829 | ambiguous | -0.322 | Destabilizing | 0.985 | D | 0.459 | neutral | None | None | None | None | N |
E/P | 0.963 | likely_pathogenic | 0.9648 | pathogenic | -0.197 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
E/Q | 0.133 | likely_benign | 0.1284 | benign | -0.276 | Destabilizing | 0.961 | D | 0.44 | neutral | N | 0.493165203 | None | None | N |
E/R | 0.2581 | likely_benign | 0.2567 | benign | 0.364 | Stabilizing | 0.942 | D | 0.407 | neutral | None | None | None | None | N |
E/S | 0.2231 | likely_benign | 0.1924 | benign | -0.502 | Destabilizing | 0.97 | D | 0.404 | neutral | None | None | None | None | N |
E/T | 0.2238 | likely_benign | 0.2005 | benign | -0.299 | Destabilizing | 0.985 | D | 0.501 | neutral | None | None | None | None | N |
E/V | 0.2309 | likely_benign | 0.2152 | benign | -0.197 | Destabilizing | 0.994 | D | 0.525 | neutral | D | 0.537158642 | None | None | N |
E/W | 0.9064 | likely_pathogenic | 0.9071 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
E/Y | 0.6895 | likely_pathogenic | 0.6723 | pathogenic | -0.092 | Destabilizing | 0.999 | D | 0.649 | 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.