Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 15269 | 46030;46031;46032 | chr2:178620805;178620804;178620803 | chr2:179485532;179485531;179485530 |
N2AB | 13628 | 41107;41108;41109 | chr2:178620805;178620804;178620803 | chr2:179485532;179485531;179485530 |
N2A | 12701 | 38326;38327;38328 | chr2:178620805;178620804;178620803 | chr2:179485532;179485531;179485530 |
N2B | 6204 | 18835;18836;18837 | chr2:178620805;178620804;178620803 | chr2:179485532;179485531;179485530 |
Novex-1 | 6329 | 19210;19211;19212 | chr2:178620805;178620804;178620803 | chr2:179485532;179485531;179485530 |
Novex-2 | 6396 | 19411;19412;19413 | chr2:178620805;178620804;178620803 | chr2:179485532;179485531;179485530 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/P | None | None | 0.949 | D | 0.687 | 0.546 | 0.605722390383 | gnomAD-4.0.0 | 1.59334E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77685E-05 | None | 0 | 0 | 0 | 0 | 0 |
A/V | rs1576550520 | None | 0.075 | N | 0.375 | 0.231 | 0.435152311215 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86266E-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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/C | 0.5519 | ambiguous | 0.6099 | pathogenic | -1.464 | Destabilizing | 0.996 | D | 0.616 | neutral | None | None | None | None | N |
A/D | 0.9647 | likely_pathogenic | 0.9694 | pathogenic | -3.06 | Highly Destabilizing | 0.923 | D | 0.695 | prob.neutral | None | None | None | None | N |
A/E | 0.9475 | likely_pathogenic | 0.9544 | pathogenic | -2.968 | Highly Destabilizing | 0.901 | D | 0.675 | neutral | D | 0.65851299 | None | None | N |
A/F | 0.8201 | likely_pathogenic | 0.8513 | pathogenic | -0.737 | Destabilizing | 0.961 | D | 0.697 | prob.neutral | None | None | None | None | N |
A/G | 0.3509 | ambiguous | 0.3591 | ambiguous | -1.41 | Destabilizing | 0.565 | D | 0.566 | neutral | D | 0.658410533 | None | None | N |
A/H | 0.9639 | likely_pathogenic | 0.9703 | pathogenic | -1.568 | Destabilizing | 0.989 | D | 0.686 | prob.neutral | None | None | None | None | N |
A/I | 0.3897 | ambiguous | 0.4846 | ambiguous | -0.24 | Destabilizing | 0.633 | D | 0.654 | neutral | None | None | None | None | N |
A/K | 0.9713 | likely_pathogenic | 0.9735 | pathogenic | -1.402 | Destabilizing | 0.858 | D | 0.681 | prob.neutral | None | None | None | None | N |
A/L | 0.3517 | ambiguous | 0.4212 | ambiguous | -0.24 | Destabilizing | 0.633 | D | 0.573 | neutral | None | None | None | None | N |
A/M | 0.4602 | ambiguous | 0.5722 | pathogenic | -0.405 | Destabilizing | 0.989 | D | 0.667 | neutral | None | None | None | None | N |
A/N | 0.8549 | likely_pathogenic | 0.8964 | pathogenic | -1.685 | Destabilizing | 0.858 | D | 0.698 | prob.neutral | None | None | None | None | N |
A/P | 0.7388 | likely_pathogenic | 0.7917 | pathogenic | -0.485 | Destabilizing | 0.949 | D | 0.687 | prob.neutral | D | 0.594926132 | None | None | N |
A/Q | 0.9305 | likely_pathogenic | 0.9374 | pathogenic | -1.661 | Destabilizing | 0.923 | D | 0.681 | prob.neutral | None | None | None | None | N |
A/R | 0.9391 | likely_pathogenic | 0.9376 | pathogenic | -1.233 | Destabilizing | 0.923 | D | 0.699 | prob.neutral | None | None | None | None | N |
A/S | 0.1965 | likely_benign | 0.2259 | benign | -1.863 | Destabilizing | 0.034 | N | 0.379 | neutral | N | 0.516281361 | None | None | N |
A/T | 0.107 | likely_benign | 0.1697 | benign | -1.695 | Destabilizing | 0.034 | N | 0.325 | neutral | N | 0.507817585 | None | None | N |
A/V | 0.1744 | likely_benign | 0.2166 | benign | -0.485 | Destabilizing | 0.075 | N | 0.375 | neutral | N | 0.490406781 | None | None | N |
A/W | 0.9857 | likely_pathogenic | 0.9876 | pathogenic | -1.413 | Destabilizing | 0.996 | D | 0.709 | prob.delet. | None | None | None | None | N |
A/Y | 0.9499 | likely_pathogenic | 0.9589 | pathogenic | -1.013 | Destabilizing | 0.987 | D | 0.702 | 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.